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Genome Wide Association Studies (GWAS) Research Papers - Academia.edu
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overflow: hidden; text-overflow: ellipsis; -webkit-line-clamp: 3; -webkit-box-orient: vertical; }</style><div class="col-xs-12 clearfix"><div class="u-floatLeft"><h1 class="PageHeader-title u-m0x u-fs30">Genome Wide Association Studies (GWAS)</h1><div class="u-tcGrayDark">9,414 Followers</div><div class="u-tcGrayDark u-mt2x">Recent papers in <b>Genome Wide Association Studies (GWAS)</b></div></div></div></div></div></div><div class="TabbedNavigation"><div class="container"><div class="row"><div class="col-xs-12 clearfix"><ul class="nav u-m0x u-p0x list-inline u-displayFlex"><li class="active"><a href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Top Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_/MostCited">Most Cited Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_/MostDownloaded">Most Downloaded Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_/MostRecent">Newest Papers</a></li><li><a class="" href="https://www.academia.edu/People/Genome_Wide_Association_Studies_GWAS_">People</a></li></ul></div><style type="text/css">ul.nav{flex-direction:row}@media(max-width: 567px){ul.nav{flex-direction:column}.TabbedNavigation li{max-width:100%}.TabbedNavigation li.active{background-color:var(--background-grey, #dddde2)}.TabbedNavigation li.active:before,.TabbedNavigation li.active:after{display:none}}</style></div></div></div><div class="container"><div class="row"><div class="col-xs-12"><div class="u-displayFlex"><div class="u-flexGrow1"><div class="works"><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_24880161" data-work_id="24880161" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/24880161/NTM_and_NR3C2_polymorphisms_influencing_intelligence_family_based_association_studies">NTM and NR3C2 polymorphisms influencing intelligence: family-based association studies</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Family, twin, and adoption studies have indicated that human intelligence quotient (IQ) has significant genetic components. We performed a low-density genome-wide association analysis with a family-based association test to identify... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_24880161" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Family, twin, and adoption studies have indicated that human intelligence quotient (IQ) has significant genetic components. We performed a low-density genome-wide association analysis with a family-based association test to identify genetic variants influencing IQ, as measured by Wechsler Adult Intelligence Scale full-score IQ (FSIQ). We examined 11,120 single-nucleotide polymorphisms (SNPs) from the Affymetrix GeneChips 10K mapping array genotyped in 292 nuclear families from Genetic Analysis Workshop 14, a subset from the Collaborative Study on the Genetics of Alcoholism (COGA). A replication analysis was performed using part of International Multi-Center ADHD Genetics Project (IMAGE) dataset. Twenty-two SNPs were identified as having suggestive associations with IQ (p&lt;10(-3)) in the COGA sample and eleven of the SNPs were located within known genes. In particular, NTM at 11q25 (rs411280, p = 0.000764) and NR3C2 at 4q31.1 (rs3846329, p = 0.000675) were two novel genes which hav...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/24880161" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="b8eaa53924252b65ec61f5919075f920" rel="nofollow" data-download="{"attachment_id":45201060,"asset_id":24880161,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/45201060/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="39752704" href="https://independent.academia.edu/YuePan12">Yue Pan</a><script data-card-contents-for-user="39752704" type="text/json">{"id":39752704,"first_name":"Yue","last_name":"Pan","domain_name":"independent","page_name":"YuePan12","display_name":"Yue Pan","profile_url":"https://independent.academia.edu/YuePan12?f_ri=23471","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_24880161 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="24880161"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 24880161, container: ".js-paper-rank-work_24880161", }); 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We performed a low-density genome-wide association analysis with a family-based association test to identify genetic variants influencing IQ, as measured by Wechsler Adult Intelligence Scale full-score IQ (FSIQ). We examined 11,120 single-nucleotide polymorphisms (SNPs) from the Affymetrix GeneChips 10K mapping array genotyped in 292 nuclear families from Genetic Analysis Workshop 14, a subset from the Collaborative Study on the Genetics of Alcoholism (COGA). A replication analysis was performed using part of International Multi-Center ADHD Genetics Project (IMAGE) dataset. Twenty-two SNPs were identified as having suggestive associations with IQ (p\u0026lt;10(-3)) in the COGA sample and eleven of the SNPs were located within known genes. In particular, NTM at 11q25 (rs411280, p = 0.000764) and NR3C2 at 4q31.1 (rs3846329, p = 0.000675) were two novel genes which hav...","downloadable_attachments":[{"id":45201060,"asset_id":24880161,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":39752704,"first_name":"Yue","last_name":"Pan","domain_name":"independent","page_name":"YuePan12","display_name":"Yue Pan","profile_url":"https://independent.academia.edu/YuePan12?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false},{"id":2674,"name":"Intelligence","url":"https://www.academia.edu/Documents/in/Intelligence?f_ri=23471","nofollow":false},{"id":3855,"name":"Polymorphism","url":"https://www.academia.edu/Documents/in/Polymorphism?f_ri=23471","nofollow":false},{"id":12054,"name":"International Cooperation","url":"https://www.academia.edu/Documents/in/International_Cooperation?f_ri=23471","nofollow":false},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent?f_ri=23471"},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471"},{"id":52739,"name":"Association study","url":"https://www.academia.edu/Documents/in/Association_study?f_ri=23471"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans?f_ri=23471"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes?f_ri=23471"},{"id":91863,"name":"Alcoholism","url":"https://www.academia.edu/Documents/in/Alcoholism?f_ri=23471"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female?f_ri=23471"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male?f_ri=23471"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult?f_ri=23471"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged?f_ri=23471"},{"id":295155,"name":"Middle Aged","url":"https://www.academia.edu/Documents/in/Middle_Aged?f_ri=23471"},{"id":311947,"name":"Major Depression","url":"https://www.academia.edu/Documents/in/Major_Depression?f_ri=23471"},{"id":341087,"name":"Family Health","url":"https://www.academia.edu/Documents/in/Family_Health?f_ri=23471"},{"id":382075,"name":"Adult","url":"https://www.academia.edu/Documents/in/Adult?f_ri=23471"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism?f_ri=23471"},{"id":441653,"name":"Cognitive Function","url":"https://www.academia.edu/Documents/in/Cognitive_Function?f_ri=23471"},{"id":644084,"name":"Intelligence tests","url":"https://www.academia.edu/Documents/in/Intelligence_tests?f_ri=23471"},{"id":707213,"name":"Genetic Analysis","url":"https://www.academia.edu/Documents/in/Genetic_Analysis?f_ri=23471"},{"id":771687,"name":"Image Sampling","url":"https://www.academia.edu/Documents/in/Image_Sampling?f_ri=23471"},{"id":862679,"name":"Intelligence quotient","url":"https://www.academia.edu/Documents/in/Intelligence_quotient?f_ri=23471"},{"id":1120234,"name":"Alzheimer Disease","url":"https://www.academia.edu/Documents/in/Alzheimer_Disease?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_48158172" data-work_id="48158172" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/48158172/Human_Longevity_is_Influenced_by_Many_Genetic_Variants_Evidence_from_75_000_Uk_Biobank_Participants">Human Longevity is Influenced by Many Genetic Variants: Evidence from 75,000 Uk Biobank Participants</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Variation in human lifespan is 20 to 30% heritable but few genetic variants have been identified. We undertook a Genome Wide Association Study (GWAS) using age at death of parents of middle-aged UK Biobank participants of European decent... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_48158172" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Variation in human lifespan is 20 to 30% heritable but few genetic variants have been identified. We undertook a Genome Wide Association Study (GWAS) using age at death of parents of middle-aged UK Biobank participants of European decent (n=75,244 with father&#39;s and/or mother&#39;s data). Genetic risk scores for 19 phenotypes (n=777 proven variants) were also tested. Genotyped variants (n=845,997) explained 10.2% (SD=1.3%) of combined parental longevity. In GWAS, a locus in the nicotine receptor CHRNA3 - previously associated with increased smoking and lung cancer - was associated with paternal age at death, with each protective allele (rs1051730[G]) being associated with 0.03 years later age at father&#39;s death (p=3x10-8). Offspring of longer lived parents had more protective alleles (lower genetic risk scores) for coronary artery disease, systolic blood pressure, body mass index, cholesterol and triglyceride levels, type-1 diabetes, inflammatory bowel disease and Alzheimer&#3...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/48158172" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="439ae182f4e618c0d6207b6fb6ca7273" rel="nofollow" data-download="{"attachment_id":66915693,"asset_id":48158172,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/66915693/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="24273479" href="https://inserm.academia.edu/JeanMarieRobine">Jean-Marie Robine</a><script data-card-contents-for-user="24273479" type="text/json">{"id":24273479,"first_name":"Jean-Marie","last_name":"Robine","domain_name":"inserm","page_name":"JeanMarieRobine","display_name":"Jean-Marie Robine","profile_url":"https://inserm.academia.edu/JeanMarieRobine?f_ri=23471","photo":"https://0.academia-photos.com/24273479/6551032/7406990/s65_jean-marie.robine.jpg"}</script></span></span></li><li class="js-paper-rank-work_48158172 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="48158172"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 48158172, container: ".js-paper-rank-work_48158172", }); 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We undertook a Genome Wide Association Study (GWAS) using age at death of parents of middle-aged UK Biobank participants of European decent (n=75,244 with father\u0026#39;s and/or mother\u0026#39;s data). Genetic risk scores for 19 phenotypes (n=777 proven variants) were also tested. Genotyped variants (n=845,997) explained 10.2% (SD=1.3%) of combined parental longevity. In GWAS, a locus in the nicotine receptor CHRNA3 - previously associated with increased smoking and lung cancer - was associated with paternal age at death, with each protective allele (rs1051730[G]) being associated with 0.03 years later age at father\u0026#39;s death (p=3x10-8). Offspring of longer lived parents had more protective alleles (lower genetic risk scores) for coronary artery disease, systolic blood pressure, body mass index, cholesterol and triglyceride levels, type-1 diabetes, inflammatory bowel disease and Alzheimer\u0026#3...","downloadable_attachments":[{"id":66915693,"asset_id":48158172,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":24273479,"first_name":"Jean-Marie","last_name":"Robine","domain_name":"inserm","page_name":"JeanMarieRobine","display_name":"Jean-Marie Robine","profile_url":"https://inserm.academia.edu/JeanMarieRobine?f_ri=23471","photo":"https://0.academia-photos.com/24273479/6551032/7406990/s65_jean-marie.robine.jpg"}],"research_interests":[{"id":6791,"name":"Aging","url":"https://www.academia.edu/Documents/in/Aging?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies 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data-has-card-for-ri="1290" href="https://www.academia.edu/Documents/in/Immunology">Immunology</a>, <script data-card-contents-for-ri="1290" type="text/json">{"id":1290,"name":"Immunology","url":"https://www.academia.edu/Documents/in/Immunology?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="8207" href="https://www.academia.edu/Documents/in/Risk">Risk</a>, <script data-card-contents-for-ri="8207" type="text/json">{"id":8207,"name":"Risk","url":"https://www.academia.edu/Documents/in/Risk?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies 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class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/25649868/Genome_wide_association_analysis_of_actigraphic_sleep_phenotypes_in_the_LIFE_Adult_Study">Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">SUMMARY The genetic basis of sleep is still poorly understood. Despite the moderate to high heritability of sleep-related phenotypes, known genetic variants explain only a small proportion of the phenotypical variance. However, most... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_25649868" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">SUMMARY The genetic basis of sleep is still poorly understood. Despite the moderate to high heritability of sleep-related phenotypes, known genetic variants explain only a small proportion of the phenotypical variance. However, most previous studies were based solely upon self-report measures. The present study aimed to conduct the first genome-wide association (GWA) of actigraphic sleep phenotypes. The analyses included 956 middle-to older-aged subjects (40–79 years) from the LIFE Adult Study. The SenseWear Pro 3 Armband was used to collect 11 actigraphic parameters of night-and daytime sleep and three parameters of rest (lying down). The parameters comprised measures of sleep timing, quantity and quality. A total of 7 141 204 single nucleotide polymorphisms (SNPs) were analysed after imputation and quality control. We identified several variants below the significance threshold of P ≤ 59 10 À8 (not corrected for analysis of multiple traits). The most significant was a hit near UFL1 associated with sleep efficiency on weekdays (P = 1.39 9 10 À8). Further SNPs were close to significance, including an association between sleep latency and a variant in CSNK2A1 (P = 8.20 9 10 À8), a gene known to be involved in the regulation of circadian rhythm. In summary, our GWAS identified novel candidate genes with biological plausibility being promising candidates for replication and further follow-up studies.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/25649868" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="f4e9bfe809fc6788b03672980548eb06" rel="nofollow" data-download="{"attachment_id":45987456,"asset_id":25649868,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/45987456/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="49175120" href="https://independent.academia.edu/UHegerl">Ulrich Hegerl</a><script data-card-contents-for-user="49175120" type="text/json">{"id":49175120,"first_name":"Ulrich","last_name":"Hegerl","domain_name":"independent","page_name":"UHegerl","display_name":"Ulrich Hegerl","profile_url":"https://independent.academia.edu/UHegerl?f_ri=23471","photo":"/images/s65_no_pic.png"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-25649868">+1</span><div class="hidden js-additional-users-25649868"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://uni-leipzig.academia.edu/TilmanHensch">Tilman Hensch</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-25649868'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-25649868').html(); 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Despite the moderate to high heritability of sleep-related phenotypes, known genetic variants explain only a small proportion of the phenotypical variance. However, most previous studies were based solely upon self-report measures. The present study aimed to conduct the first genome-wide association (GWA) of actigraphic sleep phenotypes. The analyses included 956 middle-to older-aged subjects (40–79 years) from the LIFE Adult Study. The SenseWear Pro 3 Armband was used to collect 11 actigraphic parameters of night-and daytime sleep and three parameters of rest (lying down). The parameters comprised measures of sleep timing, quantity and quality. A total of 7 141 204 single nucleotide polymorphisms (SNPs) were analysed after imputation and quality control. We identified several variants below the significance threshold of P ≤ 59 10 À8 (not corrected for analysis of multiple traits). The most significant was a hit near UFL1 associated with sleep efficiency on weekdays (P = 1.39 9 10 À8). Further SNPs were close to significance, including an association between sleep latency and a variant in CSNK2A1 (P = 8.20 9 10 À8), a gene known to be involved in the regulation of circadian rhythm. In summary, our GWAS identified novel candidate genes with biological plausibility being promising candidates for replication and further follow-up studies.","downloadable_attachments":[{"id":45987456,"asset_id":25649868,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":49175120,"first_name":"Ulrich","last_name":"Hegerl","domain_name":"independent","page_name":"UHegerl","display_name":"Ulrich Hegerl","profile_url":"https://independent.academia.edu/UHegerl?f_ri=23471","photo":"/images/s65_no_pic.png"},{"id":49120459,"first_name":"Tilman","last_name":"Hensch","domain_name":"uni-leipzig","page_name":"TilmanHensch","display_name":"Tilman Hensch","profile_url":"https://uni-leipzig.academia.edu/TilmanHensch?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":133324,"name":"Sleep","url":"https://www.academia.edu/Documents/in/Sleep?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_7233528" data-work_id="7233528" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/7233528/The_African_Diaspora_Power_SNP_Chip_Developed_via_the_CAAPA_Consortium">The African Diaspora Power SNP Chip Developed via the CAAPA Consortium</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/7233528" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="9452fb0c457d57a1c910f133eaa8add5" rel="nofollow" data-download="{"attachment_id":33852975,"asset_id":7233528,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/33852975/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="4089989" href="https://unicah.academia.edu/EdwinFranciscoHerreraPaz">Edwin-Francisco Herrera-Paz</a><script data-card-contents-for-user="4089989" type="text/json">{"id":4089989,"first_name":"Edwin-Francisco","last_name":"Herrera-Paz","domain_name":"unicah","page_name":"EdwinFranciscoHerreraPaz","display_name":"Edwin-Francisco Herrera-Paz","profile_url":"https://unicah.academia.edu/EdwinFranciscoHerreraPaz?f_ri=23471","photo":"https://0.academia-photos.com/4089989/31670289/28968261/s65_edwin-francisco.herrera-paz.jpg"}</script></span></span></li><li class="js-paper-rank-work_7233528 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="7233528"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 7233528, container: ".js-paper-rank-work_7233528", }); 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Here, we describe the first study to perform a genome-wide... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_5215735" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">In humans, genome-wide association studies (GWAS) have been shown to be an effective and thorough approach for identifying polymorphisms associated with disease phenotypes. Here, we describe the first study to perform a genome-wide association study in canine atopic dermatitis (cAD) using the Illumina Canine SNP20 array, containing 22,362 single-nucleotide polymorphisms (SNPs). The aim of the study was to identify SNPs associated with cAD using affected and unaffected Golden Retrievers. Further validation studies were performed for potentially associated SNPs using Sequenom genotyping of larger numbers of cases and controls across eight breeds (Boxer, German Shepherd Dog, Labrador, Golden Retriever, Shiba Inu, Shih Tzu, Pit Bull, and West Highland White Terriers). Using meta-analysis, two SNPs were associated with cAD in all breeds tested. RS22114085 was identified as a susceptibility locus (p?=?0.00014, odds ratio?=?2) and RS23472497 as a protective locus (p?=?0.0015, odds ratio?=?0.6). Both of these SNPs were located in intergenic regions, and their effects have been demonstrated to be independent of each other, highlighting that further fine mapping and resequencing is required of these areas. Further, 12 SNPs were validated by Sequenom genotyping as associated with cAD, but these were not associated with all breeds. This study suggests that GWAS will be a useful approach for identifying genetic risk factors for cAD. Given the clinical heterogeneity within this condition and the likelihood that the relative genetic effect sizes are small, greater sample sizes and further studies will be required.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/5215735" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="0c2e243d4068ffdf25ed0b36f7880ab3" rel="nofollow" data-download="{"attachment_id":49396736,"asset_id":5215735,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/49396736/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="7105867" href="https://liverpool.academia.edu/StuartCarter">Stuart Carter</a><script data-card-contents-for-user="7105867" type="text/json">{"id":7105867,"first_name":"Stuart","last_name":"Carter","domain_name":"liverpool","page_name":"StuartCarter","display_name":"Stuart Carter","profile_url":"https://liverpool.academia.edu/StuartCarter?f_ri=23471","photo":"https://0.academia-photos.com/7105867/2673634/3111713/s65_stuart.carter.jpg"}</script></span></span></li><li class="js-paper-rank-work_5215735 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="5215735"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 5215735, container: ".js-paper-rank-work_5215735", }); 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Here, we describe the first study to perform a genome-wide association study in canine atopic dermatitis (cAD) using the Illumina Canine SNP20 array, containing 22,362 single-nucleotide polymorphisms (SNPs). The aim of the study was to identify SNPs associated with cAD using affected and unaffected Golden Retrievers. Further validation studies were performed for potentially associated SNPs using Sequenom genotyping of larger numbers of cases and controls across eight breeds (Boxer, German Shepherd Dog, Labrador, Golden Retriever, Shiba Inu, Shih Tzu, Pit Bull, and West Highland White Terriers). Using meta-analysis, two SNPs were associated with cAD in all breeds tested. RS22114085 was identified as a susceptibility locus (p?=?0.00014, odds ratio?=?2) and RS23472497 as a protective locus (p?=?0.0015, odds ratio?=?0.6). Both of these SNPs were located in intergenic regions, and their effects have been demonstrated to be independent of each other, highlighting that further fine mapping and resequencing is required of these areas. Further, 12 SNPs were validated by Sequenom genotyping as associated with cAD, but these were not associated with all breeds. This study suggests that GWAS will be a useful approach for identifying genetic risk factors for cAD. Given the clinical heterogeneity within this condition and the likelihood that the relative genetic effect sizes are small, greater sample sizes and further studies will be required.","downloadable_attachments":[{"id":49396736,"asset_id":5215735,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":7105867,"first_name":"Stuart","last_name":"Carter","domain_name":"liverpool","page_name":"StuartCarter","display_name":"Stuart 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Size","url":"https://www.academia.edu/Documents/in/Sample_Size?f_ri=23471"},{"id":218206,"name":"Meta Analysis","url":"https://www.academia.edu/Documents/in/Meta_Analysis?f_ri=23471"},{"id":309981,"name":"Human Genome","url":"https://www.academia.edu/Documents/in/Human_Genome?f_ri=23471"},{"id":357466,"name":"Validation Studies","url":"https://www.academia.edu/Documents/in/Validation_Studies?f_ri=23471"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype?f_ri=23471"},{"id":374336,"name":"Snp","url":"https://www.academia.edu/Documents/in/Snp?f_ri=23471"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism?f_ri=23471"},{"id":437772,"name":"Odds ratio","url":"https://www.academia.edu/Documents/in/Odds_ratio?f_ri=23471"},{"id":549280,"name":"Reproducibility of Results","url":"https://www.academia.edu/Documents/in/Reproducibility_of_Results?f_ri=23471"},{"id":591601,"name":"Atopic 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class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/20674179/A_genome_wide_association_identified_the_common_genetic_variants_influence_disease_severity_in_%CE%B20_thalassemia_hemoglobin_E">A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/20674179" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="e928afc52395d6a7ca6ffdf198f8a44a" rel="nofollow" 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Svasti","profile_url":"https://mahidol.academia.edu/SaovarosSvasti?f_ri=23471","photo":"/images/s65_no_pic.png"},{"id":42036121,"first_name":"Manit","last_name":"Nuinoon","domain_name":"independent","page_name":"ManitNuinoon","display_name":"Manit Nuinoon","profile_url":"https://independent.academia.edu/ManitNuinoon?f_ri=23471","photo":"https://0.academia-photos.com/42036121/11359762/12672079/s65_manit.nuinoon.jpg"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false},{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics?f_ri=23471","nofollow":false},{"id":4083,"name":"Complementary and Alternative Medicine","url":"https://www.academia.edu/Documents/in/Complementary_and_Alternative_Medicine?f_ri=23471","nofollow":false},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans?f_ri=23471"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=23471"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female?f_ri=23471"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male?f_ri=23471"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult?f_ri=23471"},{"id":137946,"name":"Disease Severity","url":"https://www.academia.edu/Documents/in/Disease_Severity?f_ri=23471"},{"id":213897,"name":"Phenotype","url":"https://www.academia.edu/Documents/in/Phenotype?f_ri=23471"},{"id":382075,"name":"Adult","url":"https://www.academia.edu/Documents/in/Adult?f_ri=23471"},{"id":979424,"name":"Beta Thalassemia","url":"https://www.academia.edu/Documents/in/Beta_Thalassemia?f_ri=23471"},{"id":1587858,"name":"Confidence Interval","url":"https://www.academia.edu/Documents/in/Confidence_Interval?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_20103125" data-work_id="20103125" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/20103125/The_behaviour_of_random_forest_permutation_based_variable_importance_measures_under_predictor_correlation">The behaviour of random forest permutation-based variable importance measures under predictor correlation</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div 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href="https://www.academia.edu/Documents/in/Algorithms">Algorithms</a>, <script data-card-contents-for-ri="428" type="text/json">{"id":428,"name":"Algorithms","url":"https://www.academia.edu/Documents/in/Algorithms?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="3216" href="https://www.academia.edu/Documents/in/Genomics">Genomics</a>, <script data-card-contents-for-ri="3216" type="text/json">{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a><script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=20103125]'), work: {"id":20103125,"title":"The behaviour of random forest permutation-based variable importance measures under predictor 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(GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=23471","nofollow":false},{"id":70995,"name":"Random Forest","url":"https://www.academia.edu/Documents/in/Random_Forest?f_ri=23471"},{"id":80414,"name":"Mathematical Sciences","url":"https://www.academia.edu/Documents/in/Mathematical_Sciences?f_ri=23471"},{"id":146416,"name":"BMC Bioinformatics","url":"https://www.academia.edu/Documents/in/BMC_Bioinformatics?f_ri=23471"},{"id":176486,"name":"Genome","url":"https://www.academia.edu/Documents/in/Genome?f_ri=23471"},{"id":509785,"name":"Simulation Study","url":"https://www.academia.edu/Documents/in/Simulation_Study?f_ri=23471"},{"id":735504,"name":"Genetic Association","url":"https://www.academia.edu/Documents/in/Genetic_Association?f_ri=23471"},{"id":1034278,"name":"Large Dataset Analysis","url":"https://www.academia.edu/Documents/in/Large_Dataset_Analysis?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_11600516 coauthored" data-work_id="11600516" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/11600516/Patterns_of_Nucleotide_Diversity_and_Association_Mapping">Patterns of Nucleotide Diversity and Association Mapping</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Understanding the molecular basis of adaptive traits is a major interest in conservation and population genetics. In commercial species, such as several conifers, it is also interesting for operational breeding. In this chapter, we... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_11600516" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Understanding the molecular basis of adaptive traits is a major interest in conservation and population genetics. In commercial species, such as several conifers, it is also interesting for operational breeding. In this chapter, we provide a state-of-the-art view on candidate gene research, from general estimates of nucleotide diversity and recombination to new-generation neutrality tests and association genetics methodologies. Levels of nucleotide diversity in conifers are substantial, although lower than expected given their life-history traits. In addition, linkage disequilibrium seems to decay rapidly in this group of species, at least within genes that are not submitted to natural selection. These two facts makes genetic association studies appealing in conifers, as significant associations may correspond to the actual causal polymorphisms. Population genomic methods also seem appropriate in conifers, in particular for those species with accused population genetic structure and strong response to environmental gradients. New-generation neutrality tests, outlier loci detection methods and genotype/phenotype association studies have revealed various candidate genes and single nucleotide polymorphisms underlying different adaptive phenotypes, despite potential confounding effects of demographical and historical processes. Finally, perspectives about future genomic research in conifers are provided, including its application for conservation and breeding.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/11600516" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="1dc2af8c01dca0b67d6a5c75ec159fba" rel="nofollow" data-download="{"attachment_id":37078470,"asset_id":11600516,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/37078470/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="39252849" href="https://independent.academia.edu/ShannonDillon1">Shannon Dillon</a><script data-card-contents-for-user="39252849" type="text/json">{"id":39252849,"first_name":"Shannon","last_name":"Dillon","domain_name":"independent","page_name":"ShannonDillon1","display_name":"Shannon Dillon","profile_url":"https://independent.academia.edu/ShannonDillon1?f_ri=23471","photo":"/images/s65_no_pic.png"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-11600516">+7</span><div class="hidden js-additional-users-11600516"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/PaulineGarniergere">Pauline Garnier-gere</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/NoruegaSkropa">Noruega- Skropa</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/BurdonRowland">Burdon Rowland</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://uni-goettingen.academia.edu/KonstantinKrutovsky">Konstantin Krutovsky</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://hendrix.academia.edu/AnnWillyard">Ann Willyard</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/MartinLascoux">Martin Lascoux</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/MichaelStoehr">Michael Stoehr</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-11600516'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-11600516').html(); 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It will arrive far sooner than most of us think and will... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_39335170" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">The genetics revolution that will transform our healthcare, the way we make babies, the nature of the babies we make, and ultimately our evolution as a species has already begun. It will arrive far sooner than most of us think and will transform our lives and the world around us in ways we can hardly imagine - and we aren't ready. If you have a sense that the genetics revolution is important but recognize you need to know more about what’s happening, what’s at stake, what this means for you, and what you should be doing now to prepare. <br /><br />Could this be the most important book of our generation?</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/39335170" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="4c1123df2027a3a54f60d170e03460c9" rel="nofollow" data-download="{"attachment_id":59475832,"asset_id":39335170,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/59475832/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="157547" href="https://centerforglobalinitiatives.academia.edu/ChrisStout">Chris Stout</a><script data-card-contents-for-user="157547" type="text/json">{"id":157547,"first_name":"Chris","last_name":"Stout","domain_name":"centerforglobalinitiatives","page_name":"ChrisStout","display_name":"Chris Stout","profile_url":"https://centerforglobalinitiatives.academia.edu/ChrisStout?f_ri=23471","photo":"https://0.academia-photos.com/157547/86968/94913/s65_chris.stout.jpg"}</script></span></span></li><li class="js-paper-rank-work_39335170 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="39335170"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 39335170, container: ".js-paper-rank-work_39335170", }); 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$(".js-view-count[data-work-id=79018619]").text(description); $(".js-view-count-work_79018619").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_79018619").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="79018619"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i></div><span class="InlineList-item-text u-textTruncate u-pl6x"><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a><script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (false) { 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A. Gleason, David N. Pellow, eds. (New York University Press, 2016).</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Table of Contents and Contributor bios Keywords for Environmental Studies analyzes the central terms and debates currently structuring the most exciting research in and across environmental studies, including the environmental... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_7769548" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Table of Contents and Contributor bios <br /> <br />Keywords for Environmental Studies analyzes the central terms and debates currently structuring the most exciting research in and across environmental studies, including the environmental humanities, environmental social sciences, sustainability sciences, and the sciences of nature. Sixty essays from humanists, social scientists, and scientists, each written about a single term, reveal the broad range of quantitative and qualitative approaches critical to the state of the field today. From “ecotourism” to “ecoterrorism,” from “genome” to “species,” this accessible volume illustrates the ways in which scholars are collaborating across disciplinary boundaries to reach shared understandings of key issues—such as extreme weather events or increasing global environmental inequities— in order to facilitate the pursuit of broad collective goals and actions.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/7769548" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="05fc0b0bba66301f1eec4ed4fae5f415" rel="nofollow" data-download="{"attachment_id":38614593,"asset_id":7769548,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/38614593/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="1611593" href="https://asu.academia.edu/JoniAdamson">Joni Adamson</a><script data-card-contents-for-user="1611593" type="text/json">{"id":1611593,"first_name":"Joni","last_name":"Adamson","domain_name":"asu","page_name":"JoniAdamson","display_name":"Joni Adamson","profile_url":"https://asu.academia.edu/JoniAdamson?f_ri=23471","photo":"https://0.academia-photos.com/1611593/562719/34461691/s65_joni.adamson.jpg"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-7769548">+1</span><div class="hidden js-additional-users-7769548"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://ucsb.academia.edu/DavidPellow">David Pellow</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-7769548'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-7769548').html(); 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u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/44657975/Genetic_risk_factors_associated_with_NAFLD">Genetic risk factors associated with NAFLD</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Non-alcoholic fatty liver disease (NAFLD) is estimated to affect 25% of the worldwide population, and is the leading cause of chronic liver disease in developed countries. Genetic research on NAFLD has included heritability studies,... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_44657975" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Non-alcoholic fatty liver disease (NAFLD) is estimated to affect 25% of the worldwide population, and is the leading cause of chronic liver disease in developed countries. Genetic research on NAFLD has included heritability studies, candidate gene studies, familial aggregation studies, and genome-wide association studies (GWAS). Next-generation sequencing approaches, such as whole-genome sequencing and whole-exon sequencing, are emerging as the post-GWAS era of genetic research. However, GWAS remains more practical for elucidating the genetic factors related to NAFLD, which is affected by thousands of common genetic variants and does not follow Mendelian inheritance. In the present review, we summarize the current knowledge regarding five GWAS-identified genetic loci that are associated with NAFLD. We also discuss the relationships between NAFLD-predisposing polymorphisms and cardiovascular disease, and potential applications for these identified genetic loci.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/44657975" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="c77294d3a1caec5d730ecbe9e8475f41" rel="nofollow" data-download="{"attachment_id":65130041,"asset_id":44657975,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/65130041/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="151955053" href="https://independent.academia.edu/HepatomaResearchJournal">Hepatoma Research</a><script data-card-contents-for-user="151955053" type="text/json">{"id":151955053,"first_name":"Hepatoma","last_name":"Research","domain_name":"independent","page_name":"HepatomaResearchJournal","display_name":"Hepatoma Research","profile_url":"https://independent.academia.edu/HepatomaResearchJournal?f_ri=23471","photo":"https://0.academia-photos.com/151955053/42180772/44519052/s65_hepatoma.research.jpg"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-44657975">+1</span><div class="hidden js-additional-users-44657975"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/DongYunKim10">DongYun Kim</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-44657975'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-44657975').html(); 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Genetic research on NAFLD has included heritability studies, candidate gene studies, familial aggregation studies, and genome-wide association studies (GWAS). Next-generation sequencing approaches, such as whole-genome sequencing and whole-exon sequencing, are emerging as the post-GWAS era of genetic research. However, GWAS remains more practical for elucidating the genetic factors related to NAFLD, which is affected by thousands of common genetic variants and does not follow Mendelian inheritance. In the present review, we summarize the current knowledge regarding five GWAS-identified genetic loci that are associated with NAFLD. We also discuss the relationships between NAFLD-predisposing polymorphisms and cardiovascular disease, and potential applications for these identified genetic loci.","downloadable_attachments":[{"id":65130041,"asset_id":44657975,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":151955053,"first_name":"Hepatoma","last_name":"Research","domain_name":"independent","page_name":"HepatomaResearchJournal","display_name":"Hepatoma Research","profile_url":"https://independent.academia.edu/HepatomaResearchJournal?f_ri=23471","photo":"https://0.academia-photos.com/151955053/42180772/44519052/s65_hepatoma.research.jpg"},{"id":181704200,"first_name":"DongYun","last_name":"Kim","domain_name":"independent","page_name":"DongYunKim10","display_name":"DongYun Kim","profile_url":"https://independent.academia.edu/DongYunKim10?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":47067,"name":"Liver diseases","url":"https://www.academia.edu/Documents/in/Liver_diseases?f_ri=23471","nofollow":false},{"id":103564,"name":"Fatty liver disease","url":"https://www.academia.edu/Documents/in/Fatty_liver_disease?f_ri=23471","nofollow":false},{"id":151035,"name":"NAFLD","url":"https://www.academia.edu/Documents/in/NAFLD?f_ri=23471"},{"id":151036,"name":"non alcoholic fatty liver disease (NAFLD)","url":"https://www.academia.edu/Documents/in/non_alcoholic_fatty_liver_disease_NAFLD_?f_ri=23471"},{"id":1935338,"name":"Endogenous ethanol in the pathogenesis of nonalcoholic fatty liver disease (NAFLD)","url":"https://www.academia.edu/Documents/in/Endogenous_ethanol_in_the_pathogenesis_of_nonalcoholic_fatty_liver_disease_NAFLD_?f_ri=23471"},{"id":2815858,"name":"Non-alcoholic Fatty Liver Disease (NAFLD)","url":"https://www.academia.edu/Documents/in/Non-alcoholic_Fatty_Liver_Disease_NAFLD_?f_ri=23471"},{"id":3688762,"name":"non alcoholic fatty liver disease treatment","url":"https://www.academia.edu/Documents/in/non_alcoholic_fatty_liver_disease_treatment?f_ri=23471"},{"id":3719791,"name":"NAFLD(nonalcoholic fatty liver disease)","url":"https://www.academia.edu/Documents/in/NAFLD_nonalcoholic_fatty_liver_disease_?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_78365620" data-work_id="78365620" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/78365620/The_Effect_of_Linkage_Disequilibrium_on_Regression_Analysis_and_Fine_Mapping">The Effect of Linkage Disequilibrium on Regression Analysis and Fine-Mapping</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Given a locus L1 that predisposes to a disease (causal locus) and another locus L2 that is highly correlated with the causal one (marker locus), I find the expression of the odds ratio of L2 as a function of the odds ratio of the causal... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_78365620" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Given a locus L1 that predisposes to a disease (causal locus) and another locus L2 that is highly correlated with the causal one (marker locus), I find the expression of the odds ratio of L2 as a function of the odds ratio of the causal locus, the correlation between the two loci, and the frequencies of the alleles of the two loci. I show that for a small causal odds ratio, my formula is approximated by the one commonly cited in the literature. I then derive a method for the calculation of the causal effects at each locus from the knowledge of their marginal effects (fine-mapping).</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/78365620" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="90f177bd169f8e33cedf420de38a9548" rel="nofollow" data-download="{"attachment_id":97921878,"asset_id":78365620,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/97921878/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="135391596" href="https://independent.academia.edu/PaoloMaccallini">Paolo Maccallini</a><script data-card-contents-for-user="135391596" type="text/json">{"id":135391596,"first_name":"Paolo","last_name":"Maccallini","domain_name":"independent","page_name":"PaoloMaccallini","display_name":"Paolo Maccallini","profile_url":"https://independent.academia.edu/PaoloMaccallini?f_ri=23471","photo":"https://0.academia-photos.com/135391596/45507416/63607032/s65_paolo.maccallini.jpg"}</script></span></span></li><li class="js-paper-rank-work_78365620 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="78365620"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 78365620, container: ".js-paper-rank-work_78365620", }); });</script></li><li class="js-percentile-work_78365620 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 78365620; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_78365620"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_78365620 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="78365620"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 78365620; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=78365620]").text(description); $(".js-view-count-work_78365620").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_78365620").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="78365620"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">2</a> </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="489736" href="https://www.academia.edu/Documents/in/Linkage_Disequilibrium">Linkage Disequilibrium</a><script data-card-contents-for-ri="489736" type="text/json">{"id":489736,"name":"Linkage Disequilibrium","url":"https://www.academia.edu/Documents/in/Linkage_Disequilibrium?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=78365620]'), work: {"id":78365620,"title":"The Effect of Linkage Disequilibrium on Regression Analysis and Fine-Mapping","created_at":"2022-05-03T14:50:00.929-07:00","url":"https://www.academia.edu/78365620/The_Effect_of_Linkage_Disequilibrium_on_Regression_Analysis_and_Fine_Mapping?f_ri=23471","dom_id":"work_78365620","summary":"Given a locus L1 that predisposes to a disease (causal locus) and another locus L2 that is highly correlated with the causal one (marker locus), I find the expression of the odds ratio of L2 as a function of the odds ratio of the causal locus, the correlation between the two loci, and the frequencies of the alleles of the two loci. I show that for a small causal odds ratio, my formula is approximated by the one commonly cited in the literature. I then derive a method for the calculation of the causal effects at each locus from the knowledge of their marginal effects (fine-mapping).","downloadable_attachments":[{"id":97921878,"asset_id":78365620,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":135391596,"first_name":"Paolo","last_name":"Maccallini","domain_name":"independent","page_name":"PaoloMaccallini","display_name":"Paolo Maccallini","profile_url":"https://independent.academia.edu/PaoloMaccallini?f_ri=23471","photo":"https://0.academia-photos.com/135391596/45507416/63607032/s65_paolo.maccallini.jpg"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":489736,"name":"Linkage Disequilibrium","url":"https://www.academia.edu/Documents/in/Linkage_Disequilibrium?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_35838838" data-work_id="35838838" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/35838838/SURVEY_OF_DATA_MINING_TECHNIQUES_USED_IN_HEALTHCARE_DOMAIN">SURVEY OF DATA MINING TECHNIQUES USED IN HEALTHCARE DOMAIN</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Health care industry produces enormous quantity of data that clutches complex information relating to patients and their medical conditions. Data mining is gaining popularity in different research arenas due to its infinite applications... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_35838838" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Health care industry produces enormous quantity of data that clutches complex information relating to patients and their medical conditions. Data mining is gaining popularity in different research arenas due to its infinite applications and methodologies to mine the information in correct manner. Data mining techniques have the capabilities to discover hidden patterns or relationships among the objects in the medical data. In last decade, there has been increase in usage of data mining techniques on medical data for determining useful trends or patterns that are used in analysis and decision making. Data mining has an infinite potential to utilize healthcare data more efficiently and effectually to predict different kind of disease. This paper features various Data Mining techniques such as classification, clustering, association and also highlights related work to analyse and predict human disease.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/35838838" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="560032f3b8374711dda3d3d286399064" rel="nofollow" data-download="{"attachment_id":55716984,"asset_id":35838838,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/55716984/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="74068792" href="https://independent.academia.edu/Journal_IJIST">International Journal of Information Sciences and Techniques (IJIST)</a><script data-card-contents-for-user="74068792" type="text/json">{"id":74068792,"first_name":"International Journal of Information Sciences and Techniques","last_name":"(IJIST)","domain_name":"independent","page_name":"Journal_IJIST","display_name":"International Journal of Information Sciences and Techniques (IJIST)","profile_url":"https://independent.academia.edu/Journal_IJIST?f_ri=23471","photo":"https://0.academia-photos.com/74068792/18783181/111422471/s65_international_journal_of_information_sciences_and_techniques._ijist_.png"}</script></span></span></li><li class="js-paper-rank-work_35838838 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="35838838"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 35838838, container: ".js-paper-rank-work_35838838", }); 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Data mining is gaining popularity in different research arenas due to its infinite applications and methodologies to mine the information in correct manner. Data mining techniques have the capabilities to discover hidden patterns or relationships among the objects in the medical data. In last decade, there has been increase in usage of data mining techniques on medical data for determining useful trends or patterns that are used in analysis and decision making. Data mining has an infinite potential to utilize healthcare data more efficiently and effectually to predict different kind of disease. This paper features various Data Mining techniques such as classification, clustering, association and also highlights related work to analyse and predict human disease.","downloadable_attachments":[{"id":55716984,"asset_id":35838838,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":74068792,"first_name":"International Journal of Information Sciences and Techniques","last_name":"(IJIST)","domain_name":"independent","page_name":"Journal_IJIST","display_name":"International Journal of Information Sciences and Techniques (IJIST)","profile_url":"https://independent.academia.edu/Journal_IJIST?f_ri=23471","photo":"https://0.academia-photos.com/74068792/18783181/111422471/s65_international_journal_of_information_sciences_and_techniques._ijist_.png"}],"research_interests":[{"id":465,"name":"Artificial Intelligence","url":"https://www.academia.edu/Documents/in/Artificial_Intelligence?f_ri=23471","nofollow":false},{"id":2009,"name":"Data 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itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/32013629/Silva_et_al_2017_A_genetic_chronology_for_the_Indian_Subcontinent_points_to_heavily_sex_biased_dispersals">Silva et al 2017 A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersals</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Background: India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_32013629" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Background: India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has been frequently connected to the so-called " Indo-Aryan invasions " from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time remains extremely controversial. South India, on the other hand, is dominated by Dravidian languages. India displays a high level of endogamy due to its strict social boundaries, and high genetic drift as a result of long-term isolation which, together with a very complex history, makes the genetic study of Indian populations challenging.<br /><br />Results: We have combined a detailed, high-resolution mitogenome analysis with summaries of autosomal data<br />and Y-chromosome lineages to establish a settlement chronology for the Indian Subcontinent. Maternal lineages<br />document the earliest settlement ~55–65 ka (thousand years ago), and major population shifts in the later<br />Pleistocene that explain previous dating discrepancies and neutrality violation. Whilst current genome-wide<br />analyses conflate all dispersals from Southwest and Central Asia, we were able to tease out from the mitogenome<br />data distinct dispersal episodes dating from between the Last Glacial Maximum to the Bronze Age. Moreover, we<br />found an extremely marked sex bias by comparing the different genetic systems.<br /><br />Conclusions: Maternal lineages primarily reflect earlier, pre-Holocene processes, and paternal lineages predominantly<br />episodes within the last 10 ka. In particular, genetic influx from Central Asia in the Bronze Age was strongly male-driven,<br />consistent with the patriarchal, patrilocal and patrilineal social structure attributed to the inferred pastoralist early<br />Indo-European society. This was part of a much wider process of Indo-European expansion, with an ultimate source in<br />the Pontic-Caspian region, which carried closely related Y-chromosome lineages, a smaller fraction of autosomal<br />genome-wide variation and an even smaller fraction of mitogenomes across a vast swathe of Eurasia between 5<br />and 3.5 ka.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/32013629" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="8c6f94bc115b4f2a09a26d199ec94572" rel="nofollow" data-download="{"attachment_id":52279887,"asset_id":32013629,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/52279887/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="29898" href="https://sydney.academia.edu/BobHudson">Bob Hudson</a><script data-card-contents-for-user="29898" type="text/json">{"id":29898,"first_name":"Bob","last_name":"Hudson","domain_name":"sydney","page_name":"BobHudson","display_name":"Bob Hudson","profile_url":"https://sydney.academia.edu/BobHudson?f_ri=23471","photo":"https://0.academia-photos.com/29898/9726/122790288/s65_bob.hudson.jpg"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-32013629">+2</span><div class="hidden js-additional-users-32013629"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://hud.academia.edu/MartinRichards">Martin B Richards</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://thompsonlab.academia.edu/MarinaSilva">Marina Silva</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-32013629'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-32013629').html(); 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Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has been frequently connected to the so-called \" Indo-Aryan invasions \" from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time remains extremely controversial. South India, on the other hand, is dominated by Dravidian languages. India displays a high level of endogamy due to its strict social boundaries, and high genetic drift as a result of long-term isolation which, together with a very complex history, makes the genetic study of Indian populations challenging.\n\nResults: We have combined a detailed, high-resolution mitogenome analysis with summaries of autosomal data\nand Y-chromosome lineages to establish a settlement chronology for the Indian Subcontinent. Maternal lineages\ndocument the earliest settlement ~55–65 ka (thousand years ago), and major population shifts in the later\nPleistocene that explain previous dating discrepancies and neutrality violation. Whilst current genome-wide\nanalyses conflate all dispersals from Southwest and Central Asia, we were able to tease out from the mitogenome\ndata distinct dispersal episodes dating from between the Last Glacial Maximum to the Bronze Age. Moreover, we\nfound an extremely marked sex bias by comparing the different genetic systems.\n\nConclusions: Maternal lineages primarily reflect earlier, pre-Holocene processes, and paternal lineages predominantly\nepisodes within the last 10 ka. In particular, genetic influx from Central Asia in the Bronze Age was strongly male-driven,\nconsistent with the patriarchal, patrilocal and patrilineal social structure attributed to the inferred pastoralist early\nIndo-European society. This was part of a much wider process of Indo-European expansion, with an ultimate source in\nthe Pontic-Caspian region, which carried closely related Y-chromosome lineages, a smaller fraction of autosomal\ngenome-wide variation and an even smaller fraction of mitogenomes across a vast swathe of Eurasia between 5\nand 3.5 ka.","downloadable_attachments":[{"id":52279887,"asset_id":32013629,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":29898,"first_name":"Bob","last_name":"Hudson","domain_name":"sydney","page_name":"BobHudson","display_name":"Bob Hudson","profile_url":"https://sydney.academia.edu/BobHudson?f_ri=23471","photo":"https://0.academia-photos.com/29898/9726/122790288/s65_bob.hudson.jpg"},{"id":510016,"first_name":"Martin","last_name":"Richards","domain_name":"hud","page_name":"MartinRichards","display_name":"Martin B 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itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/48956024/A_first_glance_at_the_UK_Biobank_Database">A first glance at the UK Biobank Database</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">This document describes a set of metadata generated from the results of a genome-wide association study on half a million UK participants. This set of metadata is publicly available and it provides a wealth of genetic information on 1659... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_48956024" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">This document describes a set of metadata generated from the results of a genome-wide association study on half a million UK participants. This set of metadata is publicly available and it provides a wealth of genetic information on 1659 ME/CFS patients (self-reported diagnosis) and 359482 controls. 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This set of metadata is publicly available and it provides a wealth of genetic information on 1659 ME/CFS patients (self-reported diagnosis) and 359482 controls. This analysis suggests that a particular variant of the gene that encodes ornithine transporter type I may represent a genetic risk for ME/CFS in females (but not in males). ","downloadable_attachments":[{"id":81406304,"asset_id":48956024,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":135391596,"first_name":"Paolo","last_name":"Maccallini","domain_name":"independent","page_name":"PaoloMaccallini","display_name":"Paolo Maccallini","profile_url":"https://independent.academia.edu/PaoloMaccallini?f_ri=23471","photo":"https://0.academia-photos.com/135391596/45507416/63607032/s65_paolo.maccallini.jpg"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":1574586,"name":"Myalgic Encephalomyelitis / Chronic Fatigue Syndrome","url":"https://www.academia.edu/Documents/in/Myalgic_Encephalomyelitis_Chronic_Fatigue_Syndrome?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_41942214" data-work_id="41942214" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/41942214/The_Internet_of_Life_Chapter_1_Universal_nonrandom_network_protocols_govern_development_and_evolution_of_all_bilaterians">The Internet of Life Chapter 1: Universal nonrandom network protocols govern development and evolution of all bilaterians</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">All diploid sexual organisms have two distinct haploid genomes, one from each parent. There is the male derived haploid genome and the female derived haploid genome. Each genome contains a distinct developmental control network that... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_41942214" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">All diploid sexual organisms have two distinct haploid genomes, one from each parent. There is the male derived haploid genome and the female derived haploid genome. Each genome contains a distinct developmental control network that directs the development of the embryo to an adult. Run separately, independent of the influence of the other network, the each haploid genome produces a morphologically different organism. The interrelationship of the male and female haploid genome networks is governed by an interaction protocol that determines which parental network is in control in any given cell at any given point in development. The protocol consists of two interacting half-protocols, one for each parental hap-loid genome. The full interaction protocol is itself a higher-level, meta-network, or internetwork between the two lower-level, parental developmental control networks. Computer simulations show that if the interaction protocol is random then there is a loss of bilateral symmetry in the generated organism. Therefore, for all bilaterally symmetric organisms, the interaction protocol between the two parental genomes cannot be random. This implies that a nonrandom ur-protocol must have evolved with the first diploid bilaterians in the Precambrian more than 570 million years ago. Nonrandom protocols partition the embryo and adult into dynamic sections that are variably controlled by one or the other parental haploid genome network. Developmental networks and their meta-network protocols provide fundamentally new insights into embryonic and post-embryonic development, developmental pathologies, animal and plant hybrids, heterosis, and evolutionary dynamics.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/41942214" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="d07d1477acf6fa698e8f328b2eac30f7" rel="nofollow" data-download="{"attachment_id":62065256,"asset_id":41942214,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/62065256/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="31031181" href="https://oxford.academia.edu/DrEricWerner">Dr. Eric Werner</a><script data-card-contents-for-user="31031181" type="text/json">{"id":31031181,"first_name":"Dr. Eric","last_name":"Werner","domain_name":"oxford","page_name":"DrEricWerner","display_name":"Dr. Eric Werner","profile_url":"https://oxford.academia.edu/DrEricWerner?f_ri=23471","photo":"https://0.academia-photos.com/31031181/9094898/10144334/s65_dr._eric.werner.jpg"}</script></span></span></li><li class="js-paper-rank-work_41942214 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="41942214"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 41942214, container: ".js-paper-rank-work_41942214", }); 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There is the male derived haploid genome and the female derived haploid genome. Each genome contains a distinct developmental control network that directs the development of the embryo to an adult. Run separately, independent of the influence of the other network, the each haploid genome produces a morphologically different organism. The interrelationship of the male and female haploid genome networks is governed by an interaction protocol that determines which parental network is in control in any given cell at any given point in development. The protocol consists of two interacting half-protocols, one for each parental hap-loid genome. The full interaction protocol is itself a higher-level, meta-network, or internetwork between the two lower-level, parental developmental control networks. Computer simulations show that if the interaction protocol is random then there is a loss of bilateral symmetry in the generated organism. Therefore, for all bilaterally symmetric organisms, the interaction protocol between the two parental genomes cannot be random. This implies that a nonrandom ur-protocol must have evolved with the first diploid bilaterians in the Precambrian more than 570 million years ago. Nonrandom protocols partition the embryo and adult into dynamic sections that are variably controlled by one or the other parental haploid genome network. Developmental networks and their meta-network protocols provide fundamentally new insights into embryonic and post-embryonic development, developmental pathologies, animal and plant hybrids, heterosis, and evolutionary dynamics.","downloadable_attachments":[{"id":62065256,"asset_id":41942214,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":31031181,"first_name":"Dr. Eric","last_name":"Werner","domain_name":"oxford","page_name":"DrEricWerner","display_name":"Dr. Eric Werner","profile_url":"https://oxford.academia.edu/DrEricWerner?f_ri=23471","photo":"https://0.academia-photos.com/31031181/9094898/10144334/s65_dr._eric.werner.jpg"}],"research_interests":[{"id":155,"name":"Evolutionary 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$('*[data-has-card-for-ri-list=7218713]'), work: {"id":7218713,"title":"Анализ аутосомного генофонда белорусов","created_at":"2014-05-31T22:45:55.059-07:00","url":"https://www.academia.edu/7218713/%D0%90%D0%BD%D0%B0%D0%BB%D0%B8%D0%B7_%D0%B0%D1%83%D1%82%D0%BE%D1%81%D0%BE%D0%BC%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B3%D0%B5%D0%BD%D0%BE%D1%84%D0%BE%D0%BD%D0%B4%D0%B0_%D0%B1%D0%B5%D0%BB%D0%BE%D1%80%D1%83%D1%81%D0%BE%D0%B2?f_ri=23471","dom_id":"work_7218713","summary":null,"downloadable_attachments":[{"id":33841724,"asset_id":7218713,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":231429,"first_name":"Vadim","last_name":"Verenich","domain_name":"independent","page_name":"VadimVerenich","display_name":"Vadim Verenich","profile_url":"https://independent.academia.edu/VadimVerenich?f_ri=23471","photo":"https://0.academia-photos.com/231429/713606/1157943/s65_vadim.verenich.jpg"}],"research_interests":[{"id":4480,"name":"Population Genetics","url":"https://www.academia.edu/Documents/in/Population_Genetics?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":1403555,"name":"Autosomal Genotypes","url":"https://www.academia.edu/Documents/in/Autosomal_Genotypes?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_20352793" data-work_id="20352793" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/20352793/Molecular_Dissection_of_Psoriasis_Integrating_Genetics_and_Biology">Molecular Dissection of Psoriasis: Integrating Genetics and Biology</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Psoriasis is a common and debilitating disease of the skin, nails, and joints, with an acknowledged but complex genetic basis. Early genome-wide linkage studies of psoriasis focused on segregation of microsatellite markers in families;... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_20352793" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Psoriasis is a common and debilitating disease of the skin, nails, and joints, with an acknowledged but complex genetic basis. Early genome-wide linkage studies of psoriasis focused on segregation of microsatellite markers in families; however, the only locus consistently identified resided in the major histocompatibility complex. Subsequently, several groups mapped this locus to the vicinity of HLA-C, and two groups have reported HLA-Cw6 itself to be the major susceptibility allele. More recently, the development of millions of single-nucleotide polymorphisms, coupled with the development of high-throughput genotyping platforms and a comprehensive map of human haplotypes, has made possible a genome-wide association approach using cases and controls rather than families. Taking advantage of these developments, we participated in a collaborative genome-wide association study of psoriasis involving thousands of cases and controls. Initial analysis of these data revealed and/or confirmed association between psoriasis and seven genetic loci-HLA-C, IL12B, IL23R, IL23A, IL4/IL13, TNFAIP3, and TNIP1-and ongoing studies are revealing additional loci. Here, we review the epidemiology, immunopathology, and genetics of psoriasis, and present a disease model integrating its genetics and immunology.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/20352793" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="82eae5349e49322508156e6eeec28721" rel="nofollow" data-download="{"attachment_id":41965747,"asset_id":20352793,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/41965747/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="41671423" href="https://independent.academia.edu/AndrewJohnston16">Andrew Johnston</a><script data-card-contents-for-user="41671423" type="text/json">{"id":41671423,"first_name":"Andrew","last_name":"Johnston","domain_name":"independent","page_name":"AndrewJohnston16","display_name":"Andrew Johnston","profile_url":"https://independent.academia.edu/AndrewJohnston16?f_ri=23471","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_20352793 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="20352793"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 20352793, container: ".js-paper-rank-work_20352793", }); 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Initial analysis of these data revealed and/or confirmed association between psoriasis and seven genetic loci-HLA-C, IL12B, IL23R, IL23A, IL4/IL13, TNFAIP3, and TNIP1-and ongoing studies are revealing additional loci. 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phase</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics and the transition from the... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_80437735" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics and the transition from the pandemic to the endemic phase. We are particularly concerned by the lack of solid information from the initial phases of the pandemic that highlighted the necessity for better preparation to face similar future threats. On the other hand, we are gratified by the progress into human genetic susceptibility investigations and we believe now is the time to explore the transition from the pandemic to the endemic phase. The latter will require worldwide vigilance and cooperation, especially in emerging countries. In the transition to the endemic phase, vaccination rates have lagged and developed countries should assist, as warranted, in bolstering vaccination rates worldwide. 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Here, we review the current state of research into the disease with focus on its history, human genetics and genomics and the transition from the pandemic to the endemic phase. We are particularly concerned by the lack of solid information from the initial phases of the pandemic that highlighted the necessity for better preparation to face similar future threats. On the other hand, we are gratified by the progress into human genetic susceptibility investigations and we believe now is the time to explore the transition from the pandemic to the endemic phase. The latter will require worldwide vigilance and cooperation, especially in emerging countries. In the transition to the endemic phase, vaccination rates have lagged and developed countries should assist, as warranted, in bolstering vaccination rates worldwide. We also discuss the current status of vaccines and the outlook for COVID-19.","downloadable_attachments":[{"id":86819554,"asset_id":80437735,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":42669399,"first_name":"Giuseppe","last_name":"Novelli","domain_name":"mondodomani","page_name":"GiuseppeNovelli","display_name":"Giuseppe Novelli","profile_url":"https://mondodomani.academia.edu/GiuseppeNovelli?f_ri=23471","photo":"https://0.academia-photos.com/42669399/15296646/15955482/s65_giuseppe.novelli.jpg"},{"id":145477765,"first_name":"Vito Luigi","last_name":"Colona","domain_name":"uniroma2","page_name":"VitoLuigiColona","display_name":"Vito Luigi Colona","profile_url":"https://uniroma2.academia.edu/VitoLuigiColona?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics?f_ri=23471","nofollow":false},{"id":17960,"name":"Infectious 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Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism?f_ri=23471"},{"id":413195,"name":"Time Factors","url":"https://www.academia.edu/Documents/in/Time_Factors?f_ri=23471"},{"id":522464,"name":"Short Term Memory","url":"https://www.academia.edu/Documents/in/Short_Term_Memory?f_ri=23471"},{"id":601304,"name":"Verbal Memory","url":"https://www.academia.edu/Documents/in/Verbal_Memory?f_ri=23471"},{"id":984451,"name":"Treatment Response","url":"https://www.academia.edu/Documents/in/Treatment_Response?f_ri=23471"},{"id":1627527,"name":"Cognition disorders","url":"https://www.academia.edu/Documents/in/Cognition_disorders?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_18169256" data-work_id="18169256" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/18169256/An_online_version_of_the_Mooney_Face_Test_phenotypic_and_genetic_associations">An online version of the Mooney Face Test: phenotypic and genetic associations</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">The Mooney Face Test is a widely used test of face perception, but was originally designed to be administered by personal interview. We have developed a three-alternative forced-choice version for online testing. We tested 397 healthy... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_18169256" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">The Mooney Face Test is a widely used test of face perception, but was originally designed to be administered by personal interview. We have developed a three-alternative forced-choice version for online testing. We tested 397 healthy adults between the ages of 18 and 42 (M=24 years). There was a wide range of performance (64–100% correct; M=89.6%). We observed a significant sex difference favoring males (.31 standard deviation; p =.004). In addition, independently of sex, higher 2D:4D digit ratios were significantly associated with higher scores (ρ=.14, p=.006). A genome-wide association study (GWAS) for a subset of 370 participants identified an association between Mooney performance and a polymorphism in the RAPGEF5 gene (rs1522280; p=9.68×10−8). This association survives a permutation test (p=.031).</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/18169256" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="18628c4e0512d3966e505a2740f84c19" rel="nofollow" data-download="{"attachment_id":39912706,"asset_id":18169256,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/39912706/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="10278" href="https://unimelb.academia.edu/PatrickGoodbourn">Patrick Goodbourn</a><script data-card-contents-for-user="10278" type="text/json">{"id":10278,"first_name":"Patrick","last_name":"Goodbourn","domain_name":"unimelb","page_name":"PatrickGoodbourn","display_name":"Patrick Goodbourn","profile_url":"https://unimelb.academia.edu/PatrickGoodbourn?f_ri=23471","photo":"https://0.academia-photos.com/10278/3481/11895317/s65_patrick.goodbourn.jpg"}</script></span></span></li><li class="js-paper-rank-work_18169256 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="18169256"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 18169256, container: ".js-paper-rank-work_18169256", }); 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$(".js-view-count[data-work-id=18169256]").text(description); $(".js-view-count-work_18169256").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_18169256").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="18169256"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">3</a> </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="28499" href="https://www.academia.edu/Documents/in/Face_perception">Face perception</a>, <script data-card-contents-for-ri="28499" type="text/json">{"id":28499,"name":"Face perception","url":"https://www.academia.edu/Documents/in/Face_perception?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="30048" href="https://www.academia.edu/Documents/in/Individual_Differences">Individual Differences</a><script data-card-contents-for-ri="30048" type="text/json">{"id":30048,"name":"Individual Differences","url":"https://www.academia.edu/Documents/in/Individual_Differences?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=18169256]'), work: {"id":18169256,"title":"An online version of the Mooney Face Test: phenotypic and genetic associations","created_at":"2015-11-11T15:07:40.220-08:00","url":"https://www.academia.edu/18169256/An_online_version_of_the_Mooney_Face_Test_phenotypic_and_genetic_associations?f_ri=23471","dom_id":"work_18169256","summary":"The Mooney Face Test is a widely used test of face perception, but was originally designed to be administered by personal interview. We have developed a three-alternative forced-choice version for online testing. We tested 397 healthy adults between the ages of 18 and 42 (M=24 years). There was a wide range of performance (64–100% correct; M=89.6%). We observed a significant sex difference favoring males (.31 standard deviation; p =.004). In addition, independently of sex, higher 2D:4D digit ratios were significantly associated with higher scores (ρ=.14, p=.006). A genome-wide association study (GWAS) for a subset of 370 participants identified an association between Mooney performance and a polymorphism in the RAPGEF5 gene (rs1522280; p=9.68×10−8). This association survives a permutation test (p=.031).","downloadable_attachments":[{"id":39912706,"asset_id":18169256,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":10278,"first_name":"Patrick","last_name":"Goodbourn","domain_name":"unimelb","page_name":"PatrickGoodbourn","display_name":"Patrick Goodbourn","profile_url":"https://unimelb.academia.edu/PatrickGoodbourn?f_ri=23471","photo":"https://0.academia-photos.com/10278/3481/11895317/s65_patrick.goodbourn.jpg"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":28499,"name":"Face perception","url":"https://www.academia.edu/Documents/in/Face_perception?f_ri=23471","nofollow":false},{"id":30048,"name":"Individual Differences","url":"https://www.academia.edu/Documents/in/Individual_Differences?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_35919550" data-work_id="35919550" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/35919550/GWAS_Uncovers_Differential_Genetic_Bases_for_Drought_and_Salt_Tolerances_in_Sesame_at_the_Germination_Stage">GWAS Uncovers Differential Genetic Bases for Drought and Salt Tolerances in Sesame at the Germination Stage</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Sesame has great potential as an industrial crop but its production is challenged by drought and salt stresses. To unravel the genetic variants leading to salinity and drought tolerances at the germination stage, genome-wide association... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_35919550" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Sesame has great potential as an industrial crop but its production is challenged by drought and salt stresses. To unravel the genetic variants leading to salinity and drought tolerances at the germination stage, genome-wide association studies of stress tolerance indexes related to NaCl-salt and polyethylene glycol-drought induced stresses were performed with a diversity panel of 490 sesame accessions. An extensive variation was observed for drought and salt responses in the population and most of the accessions were moderately tolerant to both stresses. A total of 132 and 120 significant Single Nucleotide Polymorphisms (SNPs) resolved to nine and 15 Quantitative trait loci (QTLs) were detected for drought and salt stresses, respectively. Only two common QTLs for drought and salt responses were found located on linkage groups 5 and 7, respectively. This indicates that the genetic bases for drought and salt responses in sesame are different. A total of 13 and 27 potential candidate genes were uncovered for drought and salt tolerance indexes, respectively, encoding transcription factors, antioxidative enzymes, osmoprotectants and involved in hormonal biosynthesis, signal transduction or ion sequestration. The identified SNPs and potential candidate genes represent valuable resources for future functional characterization towards the enhancement of sesame cultivars for drought and salt tolerances.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/35919550" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="f0f98cb7411f243d88f9e18ee9611253" rel="nofollow" data-download="{"attachment_id":55800579,"asset_id":35919550,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/55800579/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="51293504" href="https://ucad.academia.edu/KomiviDossa">Komivi Dossa</a><script data-card-contents-for-user="51293504" type="text/json">{"id":51293504,"first_name":"Komivi","last_name":"Dossa","domain_name":"ucad","page_name":"KomiviDossa","display_name":"Komivi Dossa","profile_url":"https://ucad.academia.edu/KomiviDossa?f_ri=23471","photo":"https://0.academia-photos.com/51293504/13588980/14749275/s65_komivi.dossa.jpg"}</script></span></span></li><li class="js-paper-rank-work_35919550 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="35919550"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 35919550, container: ".js-paper-rank-work_35919550", }); 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$(".js-view-count[data-work-id=35919550]").text(description); $(".js-view-count-work_35919550").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_35919550").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="35919550"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">6</a> </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="129117" href="https://www.academia.edu/Documents/in/Sesame">Sesame</a>, <script data-card-contents-for-ri="129117" type="text/json">{"id":129117,"name":"Sesame","url":"https://www.academia.edu/Documents/in/Sesame?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="165645" href="https://www.academia.edu/Documents/in/QTl_Analysis_for_abiotic_stress">QTl Analysis for abiotic stress</a>, <script data-card-contents-for-ri="165645" type="text/json">{"id":165645,"name":"QTl Analysis for abiotic stress","url":"https://www.academia.edu/Documents/in/QTl_Analysis_for_abiotic_stress?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="231390" href="https://www.academia.edu/Documents/in/SALT_TOLERANCE">SALT TOLERANCE</a><script data-card-contents-for-ri="231390" type="text/json">{"id":231390,"name":"SALT TOLERANCE","url":"https://www.academia.edu/Documents/in/SALT_TOLERANCE?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=35919550]'), work: {"id":35919550,"title":"GWAS Uncovers Differential Genetic Bases for Drought and Salt Tolerances in Sesame at the Germination Stage","created_at":"2018-02-14T04:19:32.781-08:00","url":"https://www.academia.edu/35919550/GWAS_Uncovers_Differential_Genetic_Bases_for_Drought_and_Salt_Tolerances_in_Sesame_at_the_Germination_Stage?f_ri=23471","dom_id":"work_35919550","summary":"Sesame has great potential as an industrial crop but its production is challenged by drought and salt stresses. To unravel the genetic variants leading to salinity and drought tolerances at the germination stage, genome-wide association studies of stress tolerance indexes related to NaCl-salt and polyethylene glycol-drought induced stresses were performed with a diversity panel of 490 sesame accessions. An extensive variation was observed for drought and salt responses in the population and most of the accessions were moderately tolerant to both stresses. A total of 132 and 120 significant Single Nucleotide Polymorphisms (SNPs) resolved to nine and 15 Quantitative trait loci (QTLs) were detected for drought and salt stresses, respectively. Only two common QTLs for drought and salt responses were found located on linkage groups 5 and 7, respectively. This indicates that the genetic bases for drought and salt responses in sesame are different. A total of 13 and 27 potential candidate genes were uncovered for drought and salt tolerance indexes, respectively, encoding transcription factors, antioxidative enzymes, osmoprotectants and involved in hormonal biosynthesis, signal transduction or ion sequestration. The identified SNPs and potential candidate genes represent valuable resources for future functional characterization towards the enhancement of sesame cultivars for drought and salt tolerances.","downloadable_attachments":[{"id":55800579,"asset_id":35919550,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":51293504,"first_name":"Komivi","last_name":"Dossa","domain_name":"ucad","page_name":"KomiviDossa","display_name":"Komivi Dossa","profile_url":"https://ucad.academia.edu/KomiviDossa?f_ri=23471","photo":"https://0.academia-photos.com/51293504/13588980/14749275/s65_komivi.dossa.jpg"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":129117,"name":"Sesame","url":"https://www.academia.edu/Documents/in/Sesame?f_ri=23471","nofollow":false},{"id":165645,"name":"QTl Analysis for abiotic stress","url":"https://www.academia.edu/Documents/in/QTl_Analysis_for_abiotic_stress?f_ri=23471","nofollow":false},{"id":231390,"name":"SALT TOLERANCE","url":"https://www.academia.edu/Documents/in/SALT_TOLERANCE?f_ri=23471","nofollow":false},{"id":283029,"name":"Drought tolerance","url":"https://www.academia.edu/Documents/in/Drought_tolerance?f_ri=23471"},{"id":1223702,"name":"Crop improvements","url":"https://www.academia.edu/Documents/in/Crop_improvements?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_19096350 coauthored" data-work_id="19096350" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" 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u-tcGrayDarkest"><div class="summarized">COVID-19, caused by the novel SARS-CoV-2 virus, started in China in late 2019, and soon became a global pandemic. With the help of thousands of viral genome sequences that have been accumulating, it has become possible to track the... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_43323790" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">COVID-19, caused by the novel SARS-CoV-2 virus, started in China in late 2019, and soon became a global pandemic. With the help of thousands of viral genome sequences that have been accumulating, it has become possible to track the evolution of viral genome over time as it spread across the world. An important question that still needs to be answered is whether any of the common mutations affect the viral properties, and therefore the disease characteristics. Therefore, we sought to understand the effects of mutations in RNA-dependent RNA polymerase (RdRp), particularly the common 14408C>T mutation, on mutation rate and viral spread. By focusing on mutations in the slowly evolving M or E genes, we aimed to minimize the effects of selective pressure. Our results indicate that 14408C>T mutation increases the mutation rate, while the third-most common RdRp mutation, 15324C>T, has the opposite effect. 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class="u-tcGrayDark u-fw700" data-has-card-for-user="9681496" href="https://independent.academia.edu/thuynguyen67">thuy nguyen</a><script data-card-contents-for-user="9681496" type="text/json">{"id":9681496,"first_name":"thuy","last_name":"nguyen","domain_name":"independent","page_name":"thuynguyen67","display_name":"thuy nguyen","profile_url":"https://independent.academia.edu/thuynguyen67?f_ri=23471","photo":"https://0.academia-photos.com/9681496/12557704/13972209/s65_thuy.nguyen.jpg"}</script></span></span></li><li class="js-paper-rank-work_6270352 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="6270352"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 6270352, container: ".js-paper-rank-work_6270352", }); });</script></li><li class="js-percentile-work_6270352 InlineList-item InlineList-item--bordered hidden 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href="https://www.academia.edu/Documents/in/Adolescent">Adolescent</a>, <script data-card-contents-for-ri="22506" type="text/json">{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="28235" href="https://www.academia.edu/Documents/in/Multidisciplinary">Multidisciplinary</a><script data-card-contents-for-ri="28235" 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nguyen","profile_url":"https://independent.academia.edu/thuynguyen67?f_ri=23471","photo":"https://0.academia-photos.com/9681496/12557704/13972209/s65_thuy.nguyen.jpg"}],"research_interests":[{"id":3851,"name":"Obesity","url":"https://www.academia.edu/Documents/in/Obesity?f_ri=23471","nofollow":false},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary?f_ri=23471","nofollow":false},{"id":52489,"name":"Adipose tissue","url":"https://www.academia.edu/Documents/in/Adipose_tissue?f_ri=23471"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans?f_ri=23471"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=23471"},{"id":181569,"name":"Proteins","url":"https://www.academia.edu/Documents/in/Proteins?f_ri=23471"},{"id":220780,"name":"PLoS one","url":"https://www.academia.edu/Documents/in/PLoS_one?f_ri=23471"},{"id":309981,"name":"Human Genome","url":"https://www.academia.edu/Documents/in/Human_Genome?f_ri=23471"},{"id":353163,"name":"Fat Mass","url":"https://www.academia.edu/Documents/in/Fat_Mass?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_35875547" data-work_id="35875547" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/35875547/Genome_wide_identification_of_microRNAs_in_pomegranate_Punica_granatum_L_by_high_throughput_sequencing">Genome-wide identification of microRNAs in pomegranate (Punica granatum L.) by high-throughput sequencing</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Background: MicroRNAs (miRNAs), a class of small non-coding endogenous RNAs that regulate gene expression post-transcriptionally, play multiple key roles in plant growth and development and in biotic and abiotic stress response. Knowledge... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_35875547" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Background: MicroRNAs (miRNAs), a class of small non-coding endogenous RNAs that regulate gene expression post-transcriptionally, play multiple key roles in plant growth and development and in biotic and abiotic stress response. Knowledge and roles of miRNAs in pomegranate fruit development have not been explored. Results: Pomegranate, which accumulates a large amount of anthocyanins in skin and arils, is valuable to human health, mainly because of its antioxidant properties. In this study, we developed a small RNA library from pooled RNA samples from young seedlings to mature fruits and identified both conserved and pomegranate-specific miRNA from 29,948,480 high-quality reads. For the pool of 15-to 30-nt small RNAs, ~50 % were 24 nt. The miR157 family was the most abundant, followed by miR156, miR166, and miR168, with variants within each family. The base bias at the first position from the 5' end had a strong preference for U for most 18-to 26-nt sRNAs but a preference for A for 18-nt sRNAs. In addition, for all 24-nt sRNAs, the nucleotide U was preferred (97 %) in the first position. Stem-loop RT-qPCR was used to validate the expression of the predominant miRNAs and novel miRNAs in leaves, male and female flowers, and multiple fruit developmental stages; miR156, miR156a, miR159a, miR159b, and miR319b were upregulated during the later stages of fruit development. Higher expression of miR156 in later fruit developmental may positively regulate anthocyanin biosynthesis by reducing SPL transcription factor. Novel miRNAs showed variation in expression among different tissues. These novel miRNAs targeted different transcription factors and hormone related regulators. Gene ontology and KEGG pathway analyses revealed predominant metabolic processes and catalytic activities, important for fruit development. In addition, KEGG pathway analyses revealed the involvement of miRNAs in ascorbate and linolenic acid, starch and sucrose metabolism; RNA transport; plant hormone signaling pathways; and circadian clock.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/35875547" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="547d8d890236a9fe62c2912f09e13f08" rel="nofollow" data-download="{"attachment_id":55755428,"asset_id":35875547,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/55755428/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="63233515" href="https://nbaim.academia.edu/RamajayamDevarajan">Devarajan Ramajayam</a><script data-card-contents-for-user="63233515" type="text/json">{"id":63233515,"first_name":"Devarajan","last_name":"Ramajayam","domain_name":"nbaim","page_name":"RamajayamDevarajan","display_name":"Devarajan Ramajayam","profile_url":"https://nbaim.academia.edu/RamajayamDevarajan?f_ri=23471","photo":"https://0.academia-photos.com/63233515/18999433/18945081/s65_ramajayam.devarajan.jpg"}</script></span></span></li><li class="js-paper-rank-work_35875547 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="35875547"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 35875547, container: ".js-paper-rank-work_35875547", }); 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$(".js-view-count[data-work-id=35875547]").text(description); $(".js-view-count-work_35875547").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_35875547").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="35875547"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i></div><span class="InlineList-item-text u-textTruncate u-pl6x"><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a><script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (false) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=35875547]'), work: {"id":35875547,"title":"Genome-wide identification of microRNAs in pomegranate (Punica granatum L.) by high-throughput sequencing","created_at":"2018-02-08T21:56:11.518-08:00","url":"https://www.academia.edu/35875547/Genome_wide_identification_of_microRNAs_in_pomegranate_Punica_granatum_L_by_high_throughput_sequencing?f_ri=23471","dom_id":"work_35875547","summary":"Background: MicroRNAs (miRNAs), a class of small non-coding endogenous RNAs that regulate gene expression post-transcriptionally, play multiple key roles in plant growth and development and in biotic and abiotic stress response. Knowledge and roles of miRNAs in pomegranate fruit development have not been explored. Results: Pomegranate, which accumulates a large amount of anthocyanins in skin and arils, is valuable to human health, mainly because of its antioxidant properties. In this study, we developed a small RNA library from pooled RNA samples from young seedlings to mature fruits and identified both conserved and pomegranate-specific miRNA from 29,948,480 high-quality reads. For the pool of 15-to 30-nt small RNAs, ~50 % were 24 nt. The miR157 family was the most abundant, followed by miR156, miR166, and miR168, with variants within each family. The base bias at the first position from the 5' end had a strong preference for U for most 18-to 26-nt sRNAs but a preference for A for 18-nt sRNAs. In addition, for all 24-nt sRNAs, the nucleotide U was preferred (97 %) in the first position. Stem-loop RT-qPCR was used to validate the expression of the predominant miRNAs and novel miRNAs in leaves, male and female flowers, and multiple fruit developmental stages; miR156, miR156a, miR159a, miR159b, and miR319b were upregulated during the later stages of fruit development. Higher expression of miR156 in later fruit developmental may positively regulate anthocyanin biosynthesis by reducing SPL transcription factor. Novel miRNAs showed variation in expression among different tissues. These novel miRNAs targeted different transcription factors and hormone related regulators. Gene ontology and KEGG pathway analyses revealed predominant metabolic processes and catalytic activities, important for fruit development. In addition, KEGG pathway analyses revealed the involvement of miRNAs in ascorbate and linolenic acid, starch and sucrose metabolism; RNA transport; plant hormone signaling pathways; and circadian clock.","downloadable_attachments":[{"id":55755428,"asset_id":35875547,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":63233515,"first_name":"Devarajan","last_name":"Ramajayam","domain_name":"nbaim","page_name":"RamajayamDevarajan","display_name":"Devarajan Ramajayam","profile_url":"https://nbaim.academia.edu/RamajayamDevarajan?f_ri=23471","photo":"https://0.academia-photos.com/63233515/18999433/18945081/s65_ramajayam.devarajan.jpg"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x 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itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/9160645/Identifying_highly_penetrant_disease_causal_mutations_using_next_generation_sequencing_Guide_to_whole_process">Identifying highly-penetrant disease causal mutations using next generation sequencing: Guide to whole process</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g. mutation databases, software). This wide range... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_9160645" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g. mutation databases, software). This wide range of methods and a diversity of file formats used in sequence analysis is a significant issue, with a considerable amount of time spent before anyone can even attempt to analyse the genetic basis of human disorders. Another point to consider is although many possess ‘just enough’ knowledge to analyse their data, they do not make full use of the tools and databases that are available and also do not fully understand how their data was created. The primary aim of this review is to document some of the key approaches and provide an analysis schema to make the analysis process more efficient and reliable in the context of discovering highly penetrant causal mutations/genes. This review will also compare the methods used to identify highly penetrant variants when data is obtained from consanguineous individuals as opposed to non-consanguineous; and when Mendelian disorders are analysed as opposed to common-complex disorders.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/9160645" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="40726c8f12705c72dedef3a7ace50beb" rel="nofollow" data-download="{"attachment_id":39249427,"asset_id":9160645,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/39249427/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="1358547" href="https://boehringer-ingelheim.academia.edu/AMesutErzurumluoglu">A. 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Mesut Erzurumluoglu","profile_url":"https://boehringer-ingelheim.academia.edu/AMesutErzurumluoglu?f_ri=23471","photo":"https://0.academia-photos.com/1358547/496411/95165853/s65_a._mesut.erzurumluoglu.png"}</script></span></span></li><li class="js-paper-rank-work_9160645 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="9160645"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 9160645, container: ".js-paper-rank-work_9160645", }); });</script></li><li class="js-percentile-work_9160645 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 9160645; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_9160645"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_9160645 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="9160645"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 9160645; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=9160645]").text(description); $(".js-view-count-work_9160645").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_9160645").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="9160645"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">11</a> </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="146" href="https://www.academia.edu/Documents/in/Bioinformatics">Bioinformatics</a>, <script data-card-contents-for-ri="146" type="text/json">{"id":146,"name":"Bioinformatics","url":"https://www.academia.edu/Documents/in/Bioinformatics?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="156" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="1135" href="https://www.academia.edu/Documents/in/Human_Genetics">Human Genetics</a>, <script data-card-contents-for-ri="1135" type="text/json">{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="2568" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a><script data-card-contents-for-ri="2568" type="text/json">{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=9160645]'), work: {"id":9160645,"title":"Identifying highly-penetrant disease causal mutations using next generation sequencing: Guide to whole process","created_at":"2014-11-06T06:06:06.366-08:00","url":"https://www.academia.edu/9160645/Identifying_highly_penetrant_disease_causal_mutations_using_next_generation_sequencing_Guide_to_whole_process?f_ri=23471","dom_id":"work_9160645","summary":"Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g. mutation databases, software). This wide range of methods and a diversity of file formats used in sequence analysis is a significant issue, with a considerable amount of time spent before anyone can even attempt to analyse the genetic basis of human disorders. Another point to consider is although many possess ‘just enough’ knowledge to analyse their data, they do not make full use of the tools and databases that are available and also do not fully understand how their data was created. The primary aim of this review is to document some of the key approaches and provide an analysis schema to make the analysis process more efficient and reliable in the context of discovering highly penetrant causal mutations/genes. This review will also compare the methods used to identify highly penetrant variants when data is obtained from consanguineous individuals as opposed to non-consanguineous; and when Mendelian disorders are analysed as opposed to common-complex disorders.","downloadable_attachments":[{"id":39249427,"asset_id":9160645,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":1358547,"first_name":"A. Mesut","last_name":"Erzurumluoglu","domain_name":"boehringer-ingelheim","page_name":"AMesutErzurumluoglu","display_name":"A. Mesut Erzurumluoglu","profile_url":"https://boehringer-ingelheim.academia.edu/AMesutErzurumluoglu?f_ri=23471","photo":"https://0.academia-photos.com/1358547/496411/95165853/s65_a._mesut.erzurumluoglu.png"}],"research_interests":[{"id":146,"name":"Bioinformatics","url":"https://www.academia.edu/Documents/in/Bioinformatics?f_ri=23471","nofollow":false},{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false},{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics?f_ri=23471","nofollow":false},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471"},{"id":40727,"name":"Next generation sequencing","url":"https://www.academia.edu/Documents/in/Next_generation_sequencing?f_ri=23471"},{"id":103992,"name":"Clinical Genetics","url":"https://www.academia.edu/Documents/in/Clinical_Genetics?f_ri=23471"},{"id":221997,"name":"Consanguineous marriages","url":"https://www.academia.edu/Documents/in/Consanguineous_marriages?f_ri=23471"},{"id":458182,"name":"Consanguinity","url":"https://www.academia.edu/Documents/in/Consanguinity?f_ri=23471"},{"id":860193,"name":"Whole Exome Sequencing","url":"https://www.academia.edu/Documents/in/Whole_Exome_Sequencing?f_ri=23471"},{"id":1121160,"name":"Mendelian Disorders","url":"https://www.academia.edu/Documents/in/Mendelian_Disorders?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_14006122 coauthored" data-work_id="14006122" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/14006122/Efficient_mapping_of_mendelian_traits_in_dogs_through_genome_wide_association">Efficient mapping of mendelian traits in dogs through genome-wide association</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/14006122" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="aa2bc48051d52f63f2910486016c480c" rel="nofollow" data-download="{"attachment_id":44712612,"asset_id":14006122,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/44712612/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="33187852" href="https://slu-se.academia.edu/%C3%85keHedhammar">Åke A Hedhammar</a><script data-card-contents-for-user="33187852" type="text/json">{"id":33187852,"first_name":"Åke","last_name":"Hedhammar","domain_name":"slu-se","page_name":"ÅkeHedhammar","display_name":"Åke A Hedhammar","profile_url":"https://slu-se.academia.edu/%C3%85keHedhammar?f_ri=23471","photo":"https://0.academia-photos.com/33187852/21042905/20533427/s65__ke.hedhammar.jpg"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-14006122">+3</span><div class="hidden js-additional-users-14006122"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://slu-se.academia.edu/G%C3%B6ranAndersson">Göran Andersson</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/NickPatterson2">Nick Patterson</a></span></div><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://uppsala.academia.edu/GerliPielberg">Gerli R Pielberg</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-14006122'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-14006122').html(); } } new HoverPopover(popoverSettings); })();</script></li><li class="js-paper-rank-work_14006122 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="14006122"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 14006122, container: ".js-paper-rank-work_14006122", }); });</script></li><li class="js-percentile-work_14006122 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: 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$(".js-view-count-work_14006122").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_14006122").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="14006122"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">14</a> </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="8952" href="https://www.academia.edu/Documents/in/Breeding">Breeding</a>, <script data-card-contents-for-ri="8952" type="text/json">{"id":8952,"name":"Breeding","url":"https://www.academia.edu/Documents/in/Breeding?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a>, <script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="52438" href="https://www.academia.edu/Documents/in/Dogs">Dogs</a><script data-card-contents-for-ri="52438" type="text/json">{"id":52438,"name":"Dogs","url":"https://www.academia.edu/Documents/in/Dogs?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=14006122]'), work: {"id":14006122,"title":"Efficient mapping of mendelian traits in dogs through genome-wide association","created_at":"2015-07-13T14:56:51.250-07:00","url":"https://www.academia.edu/14006122/Efficient_mapping_of_mendelian_traits_in_dogs_through_genome_wide_association?f_ri=23471","dom_id":"work_14006122","summary":null,"downloadable_attachments":[{"id":44712612,"asset_id":14006122,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":33187852,"first_name":"Åke","last_name":"Hedhammar","domain_name":"slu-se","page_name":"ÅkeHedhammar","display_name":"Åke A Hedhammar","profile_url":"https://slu-se.academia.edu/%C3%85keHedhammar?f_ri=23471","photo":"https://0.academia-photos.com/33187852/21042905/20533427/s65__ke.hedhammar.jpg"},{"id":33040810,"first_name":"Göran","last_name":"Andersson","domain_name":"slu-se","page_name":"GöranAndersson","display_name":"Göran Andersson","profile_url":"https://slu-se.academia.edu/G%C3%B6ranAndersson?f_ri=23471","photo":"/images/s65_no_pic.png"},{"id":32320600,"first_name":"Nick","last_name":"Patterson","domain_name":"independent","page_name":"NickPatterson2","display_name":"Nick Patterson","profile_url":"https://independent.academia.edu/NickPatterson2?f_ri=23471","photo":"/images/s65_no_pic.png"},{"id":35094212,"first_name":"Gerli","last_name":"Pielberg","domain_name":"uppsala","page_name":"GerliPielberg","display_name":"Gerli R Pielberg","profile_url":"https://uppsala.academia.edu/GerliPielberg?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":8952,"name":"Breeding","url":"https://www.academia.edu/Documents/in/Breeding?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=23471","nofollow":false},{"id":52438,"name":"Dogs","url":"https://www.academia.edu/Documents/in/Dogs?f_ri=23471","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=23471"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes?f_ri=23471"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female?f_ri=23471"},{"id":99234,"name":"Animals","url":"https://www.academia.edu/Documents/in/Animals?f_ri=23471"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male?f_ri=23471"},{"id":176486,"name":"Genome","url":"https://www.academia.edu/Documents/in/Genome?f_ri=23471"},{"id":224794,"name":"Genetic linkage analysis","url":"https://www.academia.edu/Documents/in/Genetic_linkage_analysis?f_ri=23471"},{"id":268788,"name":"Human health","url":"https://www.academia.edu/Documents/in/Human_health?f_ri=23471"},{"id":576640,"name":"Hair Color","url":"https://www.academia.edu/Documents/in/Hair_Color?f_ri=23471"},{"id":701219,"name":"Melanocytes","url":"https://www.academia.edu/Documents/in/Melanocytes?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_11679325" data-work_id="11679325" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/11679325/Stories_and_Challenges_of_Genome_Wide_Association_Studies_in_Livestock_A_Review">Stories and Challenges of Genome Wide Association Studies in Livestock — A Review</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Undoubtedly livestock is one of the major contributors to the economy of any country. The economic value of livestock includes meat, dairy products, fiber, fertilizer etc. Understanding and identifying the associations of quantitative... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_11679325" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Undoubtedly livestock is one of the major contributors to the economy of any country. The economic value of livestock includes meat, dairy products, fiber, fertilizer etc. Understanding and identifying the associations of quantitative trait loci (QTL) with the economically important traits are believed to substantially benefit the livestock industry. The past two decades have seen a flurry of interest in mapping the QTL associated with traits of economic importance on the genome. With the availability of single nucleotide polymorphism chips of various densities it is possible to identify regions, QTL and genes on the genome that explain the association and its effect on the phenotype under consideration. Remarkable advancement has been seen in genome wide association studies (GWAS) since its inception till the present day. In this review we describe the progress and challenges of GWAS in various livestock species.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/11679325" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="a40fc503800bbb89a19f7db2184b601c" rel="nofollow" data-download="{"attachment_id":39012538,"asset_id":11679325,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/39012538/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="7313221" href="https://independent.academia.edu/PSudrajad">Pita Sudrajad</a><script data-card-contents-for-user="7313221" type="text/json">{"id":7313221,"first_name":"Pita","last_name":"Sudrajad","domain_name":"independent","page_name":"PSudrajad","display_name":"Pita Sudrajad","profile_url":"https://independent.academia.edu/PSudrajad?f_ri=23471","photo":"https://0.academia-photos.com/7313221/3520062/46143357/s65_pita.sudrajad.png"}</script></span></span></li><li class="js-paper-rank-work_11679325 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="11679325"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 11679325, container: ".js-paper-rank-work_11679325", }); });</script></li><li class="js-percentile-work_11679325 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 11679325; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_11679325"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_11679325 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="11679325"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 11679325; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=11679325]").text(description); $(".js-view-count-work_11679325").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_11679325").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="11679325"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">4</a> </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="156" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="19632" href="https://www.academia.edu/Documents/in/Molecular_Genetics">Molecular Genetics</a>, <script data-card-contents-for-ri="19632" type="text/json">{"id":19632,"name":"Molecular Genetics","url":"https://www.academia.edu/Documents/in/Molecular_Genetics?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="70099" href="https://www.academia.edu/Documents/in/Livestock">Livestock</a><script data-card-contents-for-ri="70099" type="text/json">{"id":70099,"name":"Livestock","url":"https://www.academia.edu/Documents/in/Livestock?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=11679325]'), work: {"id":11679325,"title":"Stories and Challenges of Genome Wide Association Studies in Livestock — A Review","created_at":"2015-03-26T23:15:35.593-07:00","url":"https://www.academia.edu/11679325/Stories_and_Challenges_of_Genome_Wide_Association_Studies_in_Livestock_A_Review?f_ri=23471","dom_id":"work_11679325","summary":"Undoubtedly livestock is one of the major contributors to the economy of any country. The economic value of livestock includes meat, dairy products, fiber, fertilizer etc. Understanding and identifying the associations of quantitative trait loci (QTL) with the economically important traits are believed to substantially benefit the livestock industry. The past two decades have seen a flurry of interest in mapping the QTL associated with traits of economic importance on the genome. With the availability of single nucleotide polymorphism chips of various densities it is possible to identify regions, QTL and genes on the genome that explain the association and its effect on the phenotype under consideration. Remarkable advancement has been seen in genome wide association studies (GWAS) since its inception till the present day. In this review we describe the progress and challenges of GWAS in various livestock species.","downloadable_attachments":[{"id":39012538,"asset_id":11679325,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":7313221,"first_name":"Pita","last_name":"Sudrajad","domain_name":"independent","page_name":"PSudrajad","display_name":"Pita Sudrajad","profile_url":"https://independent.academia.edu/PSudrajad?f_ri=23471","photo":"https://0.academia-photos.com/7313221/3520062/46143357/s65_pita.sudrajad.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=23471","nofollow":false},{"id":19632,"name":"Molecular Genetics","url":"https://www.academia.edu/Documents/in/Molecular_Genetics?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":70099,"name":"Livestock","url":"https://www.academia.edu/Documents/in/Livestock?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_40656040 coauthored" data-work_id="40656040" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/40656040/Identifying_candidate_genes_for_Phytophthora_capsici_resistance_in_pepper_Capsicum_annuum_via_genotyping_by_sequencing_based_QtL_mapping_and_genome_wide_association_study">Identifying candidate genes for Phytophthora capsici resistance in pepper (Capsicum annuum) via genotyping-by-sequencing-based QtL mapping and genome-wide association study</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Phytophthora capsici (Leon.) is a globally prevalent, devastating oomycete pathogen that causes root rot in pepper (Capsicum annuum). Several studies have identified quantitative trait loci (QTL) underlying resistance to P. capsici root... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_40656040" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Phytophthora capsici (Leon.) is a globally prevalent, devastating oomycete pathogen that causes root rot in pepper (Capsicum annuum). Several studies have identified quantitative trait loci (QTL) underlying resistance to P. capsici root rot (pcRR). However, breeding for pepper cultivars resistant to pcRR remains challenging due to the complexity of pcRR resistance. Here, we combined traditional QtL mapping with GWAS to broaden our understanding of PcRR resistance in pepper. Three major-effect loci (5.1, 5.2, and 5.3) conferring broad-spectrum resistance to three isolates of P. capsici were mapped to pepper chromosome P5. In addition, QTLs with epistatic interactions and minor effects specific to isolate and environment were detected on other chromosomes. GWAS detected 117 significant SNPs across the genome associated with PcRR resistance, including SNPs on chromosomes P5, P7, and P11 that colocalized with the QTLs identified here and in previous studies. Clusters of candidate nucleotide-binding site-leucine-rich repeat (NBs-LRR) and receptor-like kinase (RLK) genes were predicted within the QtL and GWAs regions; such genes often function in disease resistance. these candidate genes lay the foundation for the molecular dissection of pcRR resistance. sNp markers associated with QtLs for pcRR resistance will be useful for marker-assisted breeding and genomic selection in pepper breeding. Pepper (Capsicum annuum) is an economically important horticultural crop grown in tropical and temperate regions that is used as a fresh vegetable and as a processed food product. Phytophthora capsici (Leon.) is an invasive oomycete that poses a serious threat to pepper production across the globe 1. P. capsici can infect pepper plants at any growth and developmental stage, causing damping off, root rot, stem rot, collar rot, fruit rot, and foliar blight. P. capsici root rot (PcRR) is the most devastating disease, causing up to 100% yield losses under warm (25-28 °C), humid environmental conditions 2. The pathogen may enter the plant system through the roots or stem collar, causing water-soaked lesion formation and stem girdling, eventually leading to plant wilting and death. The broad range of host species of P. capsici, including Solanaceae, Fabaceae, and Cucurbitaceae, as well as its soil-born, random mating nature, makes it quite difficult to control PcRR. Cultural practices and chemical control measures for PcRR have proven to be ineffective and unsafe 3. The use of cultivars resistant to PcRR represents the best control measure due to its eco-friendliness and cost-effectiveness. Resistance to PcRR is influenced by several factors, including environmental cues, the virulence of the P. capsici isolates, their physiological races, and the source of resistance 2,4. P. capsici isolates, with their short life</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/40656040" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="fb8d6f752c30fb8f5e707b65f6179d3f" rel="nofollow" data-download="{"attachment_id":60939125,"asset_id":40656040,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/60939125/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="9498584" href="https://irri.academia.edu/abhinandanpatil">Dr. Abhinandan S . Patil</a><script data-card-contents-for-user="9498584" type="text/json">{"id":9498584,"first_name":"Dr. Abhinandan","last_name":"Patil","domain_name":"irri","page_name":"abhinandanpatil","display_name":"Dr. Abhinandan S . Patil","profile_url":"https://irri.academia.edu/abhinandanpatil?f_ri=23471","photo":"https://0.academia-photos.com/9498584/3012791/15245693/s65_abhinandan.patil.jpg"}</script></span></span><span class="u-displayInlineBlock InlineList-item-text"> and <span class="u-textDecorationUnderline u-clickable InlineList-item-text js-work-more-authors-40656040">+1</span><div class="hidden js-additional-users-40656040"><div><span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a href="https://independent.academia.edu/HeaYoungLee">Hea-Young Lee</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-40656040'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-40656040').html(); } } new HoverPopover(popoverSettings); })();</script></li><li class="js-paper-rank-work_40656040 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="40656040"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 40656040, container: ".js-paper-rank-work_40656040", }); });</script></li><li class="js-percentile-work_40656040 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 40656040; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_40656040"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_40656040 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="40656040"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 40656040; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=40656040]").text(description); $(".js-view-count-work_40656040").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_40656040").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="40656040"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">4</a> </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="12036" href="https://www.academia.edu/Documents/in/Pepper">Pepper</a>, <script data-card-contents-for-ri="12036" type="text/json">{"id":12036,"name":"Pepper","url":"https://www.academia.edu/Documents/in/Pepper?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="38057" href="https://www.academia.edu/Documents/in/QTL_mapping">QTL mapping</a>, <script data-card-contents-for-ri="38057" type="text/json">{"id":38057,"name":"QTL mapping","url":"https://www.academia.edu/Documents/in/QTL_mapping?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="1823806" href="https://www.academia.edu/Documents/in/Phytopthora_Infestans">Phytopthora Infestans</a><script data-card-contents-for-ri="1823806" type="text/json">{"id":1823806,"name":"Phytopthora Infestans","url":"https://www.academia.edu/Documents/in/Phytopthora_Infestans?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=40656040]'), work: {"id":40656040,"title":"Identifying candidate genes for Phytophthora capsici resistance in pepper (Capsicum annuum) via genotyping-by-sequencing-based QtL mapping and genome-wide association study","created_at":"2019-10-17T21:48:07.165-07:00","url":"https://www.academia.edu/40656040/Identifying_candidate_genes_for_Phytophthora_capsici_resistance_in_pepper_Capsicum_annuum_via_genotyping_by_sequencing_based_QtL_mapping_and_genome_wide_association_study?f_ri=23471","dom_id":"work_40656040","summary":"Phytophthora capsici (Leon.) is a globally prevalent, devastating oomycete pathogen that causes root rot in pepper (Capsicum annuum). Several studies have identified quantitative trait loci (QTL) underlying resistance to P. capsici root rot (pcRR). However, breeding for pepper cultivars resistant to pcRR remains challenging due to the complexity of pcRR resistance. Here, we combined traditional QtL mapping with GWAS to broaden our understanding of PcRR resistance in pepper. Three major-effect loci (5.1, 5.2, and 5.3) conferring broad-spectrum resistance to three isolates of P. capsici were mapped to pepper chromosome P5. In addition, QTLs with epistatic interactions and minor effects specific to isolate and environment were detected on other chromosomes. GWAS detected 117 significant SNPs across the genome associated with PcRR resistance, including SNPs on chromosomes P5, P7, and P11 that colocalized with the QTLs identified here and in previous studies. Clusters of candidate nucleotide-binding site-leucine-rich repeat (NBs-LRR) and receptor-like kinase (RLK) genes were predicted within the QtL and GWAs regions; such genes often function in disease resistance. these candidate genes lay the foundation for the molecular dissection of pcRR resistance. sNp markers associated with QtLs for pcRR resistance will be useful for marker-assisted breeding and genomic selection in pepper breeding. Pepper (Capsicum annuum) is an economically important horticultural crop grown in tropical and temperate regions that is used as a fresh vegetable and as a processed food product. Phytophthora capsici (Leon.) is an invasive oomycete that poses a serious threat to pepper production across the globe 1. P. capsici can infect pepper plants at any growth and developmental stage, causing damping off, root rot, stem rot, collar rot, fruit rot, and foliar blight. P. capsici root rot (PcRR) is the most devastating disease, causing up to 100% yield losses under warm (25-28 °C), humid environmental conditions 2. The pathogen may enter the plant system through the roots or stem collar, causing water-soaked lesion formation and stem girdling, eventually leading to plant wilting and death. The broad range of host species of P. capsici, including Solanaceae, Fabaceae, and Cucurbitaceae, as well as its soil-born, random mating nature, makes it quite difficult to control PcRR. Cultural practices and chemical control measures for PcRR have proven to be ineffective and unsafe 3. The use of cultivars resistant to PcRR represents the best control measure due to its eco-friendliness and cost-effectiveness. Resistance to PcRR is influenced by several factors, including environmental cues, the virulence of the P. capsici isolates, their physiological races, and the source of resistance 2,4. P. capsici isolates, with their short life","downloadable_attachments":[{"id":60939125,"asset_id":40656040,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":9498584,"first_name":"Dr. Abhinandan","last_name":"Patil","domain_name":"irri","page_name":"abhinandanpatil","display_name":"Dr. Abhinandan S . Patil","profile_url":"https://irri.academia.edu/abhinandanpatil?f_ri=23471","photo":"https://0.academia-photos.com/9498584/3012791/15245693/s65_abhinandan.patil.jpg"},{"id":132856615,"first_name":"Hea-Young","last_name":"Lee","domain_name":"independent","page_name":"HeaYoungLee","display_name":"Hea-Young Lee","profile_url":"https://independent.academia.edu/HeaYoungLee?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":12036,"name":"Pepper","url":"https://www.academia.edu/Documents/in/Pepper?f_ri=23471","nofollow":false},{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":38057,"name":"QTL mapping","url":"https://www.academia.edu/Documents/in/QTL_mapping?f_ri=23471","nofollow":false},{"id":1823806,"name":"Phytopthora Infestans","url":"https://www.academia.edu/Documents/in/Phytopthora_Infestans?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_25180914" data-work_id="25180914" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/25180914/Association_mapping_of_genetic_network_for_plant_morphological_traits_in_cotton">Association mapping of genetic network for plant morphological traits in cotton</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Morphological traits played an important role in vegetative growth of cotton (Gossypium hirsutum L.), and also had an critical impact on reproductive growth. In this study, we dissected the genetic architecture of four morphological... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_25180914" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Morphological traits played an important role in vegetative growth of cotton (Gossypium hirsutum L.), and also had an critical impact on reproductive growth. In this study, we dissected the genetic architecture of four morphological traits, including plant height (PLH), stem diameter (STD), stem first (STF) and stem node (STN). Thirty-nine lines and their 178 F1 hybrids of Upland cotton grown in three environments were used for association mapping. The association mapping was conducted using mixed linear model approaches for analyzing full genetic model with genetic effects of additive, dominance, epistasis and their environmental interaction. The results showed that 25 highly significant quantitative trait SSRs (QTSs) were detected and their total heritability was high for the four morphological traits studied (h2G+GE≈63.08%-78.28%). It was revealed that additive, dominance and their environmental interaction effects were important genetic recourses for morphological traits in cotton. This research provides new insights into cotton quantitative genetics and molecular breeding.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/25180914" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="9d3e76edb0b113aac1ecb1d7a33f6357" rel="nofollow" data-download="{"attachment_id":45497000,"asset_id":25180914,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/45497000/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="40468276" href="https://uq.academia.edu/AngliXue">Angli Xue</a><script data-card-contents-for-user="40468276" type="text/json">{"id":40468276,"first_name":"Angli","last_name":"Xue","domain_name":"uq","page_name":"AngliXue","display_name":"Angli Xue","profile_url":"https://uq.academia.edu/AngliXue?f_ri=23471","photo":"https://0.academia-photos.com/40468276/12762177/14192559/s65_angli.xue.jpg"}</script></span></span></li><li class="js-paper-rank-work_25180914 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="25180914"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 25180914, container: ".js-paper-rank-work_25180914", }); 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In this study, we dissected the genetic architecture of four morphological traits, including plant height (PLH), stem diameter (STD), stem first (STF) and stem node (STN). Thirty-nine lines and their 178 F1 hybrids of Upland cotton grown in three environments were used for association mapping. The association mapping was conducted using mixed linear model approaches for analyzing full genetic model with genetic effects of additive, dominance, epistasis and their environmental interaction. The results showed that 25 highly significant quantitative trait SSRs (QTSs) were detected and their total heritability was high for the four morphological traits studied (h2G+GE≈63.08%-78.28%). It was revealed that additive, dominance and their environmental interaction effects were important genetic recourses for morphological traits in cotton. This research provides new insights into cotton quantitative genetics and molecular breeding.","downloadable_attachments":[{"id":45497000,"asset_id":25180914,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":40468276,"first_name":"Angli","last_name":"Xue","domain_name":"uq","page_name":"AngliXue","display_name":"Angli 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Science, 365: eaat7693) sobre la búsqueda de factores de riesgo para la atracción por personas del mismo... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_40340966" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">En este comentario divulgativo se analiza el artículo recientemente publicado por Ganna y colaboradoes en Science (Ganna, A., et al. Science, 365: eaat7693) sobre la búsqueda de factores de riesgo para la atracción por personas del mismo sexo.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/40340966" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="51bdf07613e7f6dbfdf07cccf718bf59" rel="nofollow" data-download="{"attachment_id":60585956,"asset_id":40340966,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/60585956/download_file?st=MTczMjQxNzU3Miw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="126332695" href="https://independent.academia.edu/DanielBeltran101">Daniel Beltran</a><script data-card-contents-for-user="126332695" type="text/json">{"id":126332695,"first_name":"Daniel","last_name":"Beltran","domain_name":"independent","page_name":"DanielBeltran101","display_name":"Daniel Beltran","profile_url":"https://independent.academia.edu/DanielBeltran101?f_ri=23471","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_40340966 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="40340966"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 40340966, container: ".js-paper-rank-work_40340966", }); 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$(".js-view-count[data-work-id=40340966]").text(description); $(".js-view-count-work_40340966").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_40340966").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="40340966"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i> <a class="InlineList-item-text u-positionRelative">3</a> </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="23471" href="https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_">Genome Wide Association Studies (GWAS)</a>, <script data-card-contents-for-ri="23471" type="text/json">{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="41733" href="https://www.academia.edu/Documents/in/Homosexuality">Homosexuality</a>, <script data-card-contents-for-ri="41733" type="text/json">{"id":41733,"name":"Homosexuality","url":"https://www.academia.edu/Documents/in/Homosexuality?f_ri=23471","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="1655175" href="https://www.academia.edu/Documents/in/SRY_ngo">SRY : ngo</a><script data-card-contents-for-ri="1655175" type="text/json">{"id":1655175,"name":"SRY : ngo","url":"https://www.academia.edu/Documents/in/SRY_ngo?f_ri=23471","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=40340966]'), work: {"id":40340966,"title":"Recientes publicaciones en el campo de la genética derriban el mito del gen \"gay\"","created_at":"2019-09-13T12:38:13.878-07:00","url":"https://www.academia.edu/40340966/Recientes_publicaciones_en_el_campo_de_la_gen%C3%A9tica_derriban_el_mito_del_gen_gay_?f_ri=23471","dom_id":"work_40340966","summary":"En este comentario divulgativo se analiza el artículo recientemente publicado por Ganna y colaboradoes en Science (Ganna, A., et al. Science, 365: eaat7693) sobre la búsqueda de factores de riesgo para la atracción por personas del mismo sexo.","downloadable_attachments":[{"id":60585956,"asset_id":40340966,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":126332695,"first_name":"Daniel","last_name":"Beltran","domain_name":"independent","page_name":"DanielBeltran101","display_name":"Daniel Beltran","profile_url":"https://independent.academia.edu/DanielBeltran101?f_ri=23471","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":23471,"name":"Genome Wide Association Studies (GWAS)","url":"https://www.academia.edu/Documents/in/Genome_Wide_Association_Studies_GWAS_?f_ri=23471","nofollow":false},{"id":41733,"name":"Homosexuality","url":"https://www.academia.edu/Documents/in/Homosexuality?f_ri=23471","nofollow":false},{"id":1655175,"name":"SRY : ngo","url":"https://www.academia.edu/Documents/in/SRY_ngo?f_ri=23471","nofollow":false}]}, }) } })();</script></ul></li></ul></div></div><div 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{"id":11801084,"title":"Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesia","created_at":"2015-04-05T09:14:41.296-07:00","url":"https://www.academia.edu/11801084/Association_of_the_HSPG2_gene_with_neuroleptic_induced_tardive_dyskinesia?f_ri=23471","dom_id":"work_11801084","summary":null,"downloadable_attachments":[{"id":46519408,"asset_id":11801084,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":29063884,"first_name":"Tadao","last_name":"Arinami","domain_name":"independent","page_name":"TArinami","display_name":"Tadao 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Dyskinesia","url":"https://www.academia.edu/Documents/in/Tardive_Dyskinesia?f_ri=23471"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_14926521" data-work_id="14926521" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/14926521/Genome_wide_association_mapping_of_agronomic_traits_in_relevant_barley_germplasm_in_Uruguay">Genome-wide association mapping of agronomic traits in relevant barley germplasm in Uruguay</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/14926521" 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