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Application of a newly constructed NGS panel with 45 X-linked microhaplotypes demonstrates the unique value of X-MH for kinship testing and mixture analysis - Peeref
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<ul class="nav navbar-nav navbar-right" style="display: inline-flex; align-items: center; margin-left: 20px;"> <li id="language" class="d-none d-xl-inline-flex"> <a href="javascript:"> <div class="current"> <i class="ivu-icon ivu-icon-md-globe"></i> EN </div> </a> <div class="selection"> <a rel="alternate" hreflang="en" href="https://www.peeref.com/works/83039808" > <span>English</span> </a> <a rel="alternate" hreflang="zh" href="https://www.peeref.com/zh/works/83039808" > <span>中文</span> </a> </div> </li> </ul> </ul> </div> </nav> <main> <div id="top-info-banner" class="container-fluid mb-0"> <div class="container"> <div class="d-flex align-items-center" style="margin-top: 30px;"> <span class="text-white"> <strong class="f18">☆</strong> <span class="f16">4.5</span> </span> <span class="mx-3"></span> <span class="tag">Article</span> </div> <h1 class="title title-for-article"> Application of a newly constructed NGS panel with 45 X-linked microhaplotypes demonstrates the unique value of X-MH for kinship testing and mixture analysis </h1> <div class="help-links-left"> <p class="pub-info"> FORENSIC SCIENCE INTERNATIONAL-GENETICS (2024) </p> </div> </div> </div> <div id="article-sticky-navbar"> <div class="container"> <div class="d-flex justify-content-between flex-wrap flex-md-nowrap"> <div class="d-flex align-items-center mb-2"> <ul class="nav nav-underline f16 font-weight-bold"> <li class="active"> <a href="javascript:;"> Overview </a> </li> <li class=""> <a href="https://www.peeref.com/works/83039808/comments"> Write a Review </a> </li> </ul> </div> <div class="d-flex align-items-center justify-content-md-end flex-wrap flex-md-nowrap"> <div class="mr-3 mt-3 mt-md-0 flex-shrink-0"> <a href="https://doi.org/10.1016/j.fsigen.2024.103091" target="_blank" class="btn btn-warning btn-circle"> <i class="ivu-icon ivu-icon-md-copy f16"></i> <strong>Get Full Text</strong> </a> </div> <div class="mr-3 mt-3 mt-md-0 flex-shrink-0"> <a href="https://www.peeref.com/works/83039808/add-to-collection" class="btn btn-success btn-circle"> <strong>Add to Collection</strong> </a> </div> <div class="mr-3 mt-3 mt-md-0 flex-shrink-0"> <button class="btn btn-success btn-circle" id="reading-btn"> <strong>Further Reading</strong> </button> </div> <div class="flex-shrink-0 mt-3 mt-md-0"> <div class="dropdown"> <button class="font-weight-bold f24 ivu-btn ivu-btn-default ivu-btn-circle ivu-btn-large ivu-btn-icon-only dropdown-toggle" data-toggle="dropdown"> <i class="ivu-icon ivu-icon-md-more"></i> </button> <ul class="dropdown-menu dropdown-menu-right"> <li> <a href="#" data-target="#export-citation" data-toggle="modal"> <i class="ivu-icon ivu-icon-md-quote text-muted mr-1"></i> Export Citation </a> </li> <li> <a href="#" data-target="#share-paper" data-toggle="modal"> <i class="ivu-icon ivu-icon-md-share-alt text-muted mr-1"></i> Share Paper </a> </li> <li> <a href="https://www.peeref.com/works/83039808/references"> <i class="ivu-icon ivu-icon-md-list text-muted mr-1"></i> References </a> </li> </ul> </div> </div> </div> </div> </div> </div> <div id="article-details" class="container"> <div class="col-md-4 px-0 pr-md-3"> <div class="f15 panel-box rounded shadow-none border"> <div class="mb-3 pb-3"> <h4 class="mt-0">Journal</h4> <div class="f16"> <h5 class="title f16"> <a href="https://www.peeref.com/journals/2908/forensic-science-international-genetics"> FORENSIC SCIENCE INTERNATIONAL-GENETICS </a> </h5> <span> Volume 72, Issue -, Pages - </span> </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Publisher</h4> <div class="f16"> <h5 class="title f16 text-primary"> ELSEVIER IRELAND LTD </h5> <div class="my-2"> DOI: 10.1016/j.fsigen.2024.103091 </div> </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Keywords</h4> <div class="f16"> Next generation sequencing; X-linked microhaplotype; Kinship analysis; DNA mixture analysis </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Categories</h4> <div class="f16"> <span class="d-block"> <a href="https://www.peeref.com/works/list?category=Genetics+%26+Heredity" target="_blank" class="text-dark btn btn-link p-0 text-left"> Genetics & Heredity </a> </span> <span class="d-block"> <a href="https://www.peeref.com/works/list?category=Medicine%2C+Legal" target="_blank" class="text-dark btn btn-link p-0 text-left"> Medicine, Legal </a> </span> </div> </div> <div class="mb-3 pb-3"> <h4 class="mt-0">Funding</h4> <div class="f16"> <ol class=""> <li>Natural Science Foundation of Hebei Province [H2021206454, H2021206451]</li> <li>National Natural Science Foundation of China [82072118]</li> <li>S & T Program of Hebei [225A5602D]</li> </ol> </div> </div> </div> <div class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 text-center">Ask authors/readers for more resources</h4> <div class="requests"> <div class="requests-item"> <div class="icon"> <img src="https://peeref-open.s3.amazonaws.com/images/file.png" alt=""> </div> <h4>Protocol</h4> <p> <a href="https://www.peeref.com/works/83039808/resource" class="btn btn-outline-primary btn-sm"> Community support </a> </p> </div> <div class="requests-item"> <div class="icon"> <img src="https://peeref-open.s3.amazonaws.com/images/experiment.png" alt=""> </div> <h4>Reagent</h4> <p> <a href="https://www.peeref.com/works/83039808/resource" class="btn btn-outline-primary btn-sm"> Community support </a> </p> </div> </div> </div> </div> <div class="col-md-8 px-0 pl-md-3"> <div id="article-summary-panel" class="mb-4"> <ul class="nav nav-tabs" style="list-style: none; padding-left: 0;"> <li class="active"> <a href="#ai_summary" data-toggle="tab" class="summary-tab mx-0 f16 text-dark"> <strong>Automated Summary</strong> <strong class="text-danger ml-1"><i>New</i></strong> </a> </li> <li class=""> <a href="#raw_abstract" data-toggle="tab" class="abstract-tab mx-0 f16 text-dark"> <strong>Abstract</strong> </a> </li> </ul> <div class="tab-content border border-top-0"> <div id="ai_summary" class="tab-pane active"> <div class="summary-panel panel-box mb-0 rounded shadow-none"> <div class="f16">This study screened 63 X-MHs, evaluated their performance, and calculated population parameters. The panel performed well in personal identification and paternity testing, and showed unique advantages in complex kinship and male DNA mixture analyses.</div> </div> </div> <div id="raw_abstract" class="tab-pane "> <div class="abstract-panel panel-box mb-0 rounded shadow-none"> <div class="f16">X-linked microhaplotypes (X-MHs) have the potential to be a valuable supplementary tool in complex kinship identification or the resolution of DNA mixtures, because they bring together the distinctive genetic pattern of X chromosomal markers and the benefits of microhaplotypes (MHs). In this study, we used the 1000 Genome database to screen and select 63 X-MHs; 18 MHs were filtered out though a batch sequencing assessment of the DNA samples collected from 112 unrelated Chinese Han individuals. The resulting 45-plex panel performed well in comprehensive assessments including repeatability, sensitivity, species specificity, resistance to PCR inhibitors or degradation, mutation rate, and accuracy in detecting DNA mixture samples. The minimum amount of DNA template that can be tested with this panel is 0.5 ng. Additionally, the alleles of the minor contributor can be accurately detected when the mixture rate is larger than 1:9 in female-male mixture or 1:19 in male-male mixture. Then, we calculated population parameters on each MH based on the allele frequency data obtained from the sequence results of the aforementioned 112 unrelated samples. Combining these parameters on each MH, it can be calculated that TDPm, TDPf, CPET, CPEDFM, CPEDFF and CNCEP3 of the 45-plex system were 1-8.99x10(-13), 1-1.62x10(-19), 0.9999999995, 0.9999981, 0.9955, 0.9999971 and 0.99940, respectively, indicating that the panel is capable in personal identification and parentage testing. To reveal the unique advantage of X-MHs in the analyses of complex kinship and male DNA mixture, further assessments were made. For complex kinship identification, 22 types of individual pairs with different second-degree kinship were simulated and different types of likelihood ratios (LR) were calculated for each. The results revealed that the panel can achieve accuracy of approximately 70 %similar to 80 % when dividing each of the three types of second-degree kinships into three or four groups. Theoretically, such sub-division cannot be done by using independent autosomal markers. For male DNA mixture analysis without suspects, the maximum likelihood ratio strategy was derived and employed in the estimation of the number of male contributors (NOMC). Simulations were conducted to verify the efficacy of the 45-plex panel in the field and to compare it with autosomal markers by assuming the 45 MHs as autosomal ones. The results showed that X-MHs can achieve higher accuracy in the estimation of NOMC than autosomal ones when the mixed males were unrelated. The results highlighted the unique value of X-linked MHs in complex kinship and male mixture analyses.</div> </div> </div> </div> </div> <div class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 heading-count">Authors</h4> <div class="mb-3"> <article-authors tid="83039808" list="[{"name":"Guanju Ma","sequence":1},{"name":"Kailiang Liu","sequence":2},{"name":"Chaolong Lu","sequence":3},{"name":"Qingqing Du","sequence":4},{"name":"Mengjie Zhang","sequence":5},{"name":"Qian Wang","sequence":6},{"name":"Guangping Fu","sequence":7},{"name":"Junyan Wang","sequence":8},{"name":"Chunling Ma","sequence":9},{"name":"Bin Cong","sequence":10},{"name":"Shujin Li","sequence":11},{"name":"Lihong Fu","sequence":12}]" verified="[]" page="work" ></article-authors> </div> <div class="alert alert-warning mb-0"> <h5 class="mt-0 bg-warning text-dark px-3 rounded d-inline-block"> I am an author on this paper </h5> <div class="font-weight-bold f13"> Click your name to claim this paper and add it to your profile. </div> </div> </div> <div class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 heading-count">Reviews</h4> <div class="d-flex flex-wrap flex-md-nowrap"> <div class="flex-grow-1"> <h4 class="f16"> Primary Rating <a href="javascript:;" data-toggle="tooltip" data-placement="right" title="The primary rating indicates the level of overall quality for the paper."> <i class="ivu-icon ivu-icon-md-help-circle f18 ml-2"></i> </a> </h4> <div class="d-flex flex-wrap flex-md-nowrap align-items-center alert mb-0"> <div class="d-flex align-items-center justify-content-center"> <Rate disabled allow-half value="4.5" style="font-size: 28px;"></Rate> <strong class="f20 m-3" style="color: #f5a623;">4.5</strong> </div> <div class="text-muted mx-4"> Not enough ratings </div> </div> <h4 class="f16"> Secondary Ratings <a href="javascript:;" data-toggle="tooltip" data-placement="right" title="Secondary ratings independently reflect strengths or weaknesses of the paper."> <i class="ivu-icon ivu-icon-md-help-circle f18 ml-2"></i> </a> </h4> <div class="d-flex flex-wrap flex-md-nowrap alert"> <div class="d-flex flex-shrink-0 align-items-center mr-3"> <h5 class="my-0">Novelty</h5> <strong class="mx-4">-</strong> </div> <div class="d-flex flex-shrink-0 align-items-center mr-3"> <h5 class="my-0">Significance</h5> <strong class="mx-4">-</strong> </div> <div class="d-flex flex-shrink-0 align-items-center mr-3"> <h5 class="my-0">Scientific rigor</h5> <strong class="mx-4">-</strong> </div> </div> </div> <div class="flex-shrink-0"> <div class="border bg-light py-2 px-4"> <h5 class="mb-1">Rate this paper</h5> <Rate class="f24" @on-change="function(value){ location.href='https://www.peeref.com/works/83039808/comments?rating='+value }"></Rate> </div> </div> </div> </div> <div id="collection" class="f15 panel-box rounded shadow-none border"> <h4 class="mt-0 heading-count">Recommended</h4> <div class="my-3"> <ul class="nav nav-pills border-bottom pb-3" style="list-style: none; padding-left: 0;"> <li class="active"> <a href="#articles_from_related" data-toggle="tab" class="mx-0 f15"> <strong>Related</strong> </a> </li> <li class=""> <a href="#articles_from_authors" data-toggle="tab" class="mx-0 f15"> <strong>From Same Authors</strong> </a> </li> <li class=""> <a href="#articles_from_journal" data-toggle="tab" class="mx-0 f15"> <strong>From Same Journal</strong> </a> </li> </ul> <div class="tab-content"> <div id="articles_from_related" class="tab-pane active"> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemical Research Methods </span> </div> <h4> <a href="https://www.peeref.com/works/33951175" class="text-dark hover-underline">Improving DNA mixtures analysis using compound markers composed of InDels and SNPs screened from the whole genome with next-generation sequencing</a> </h4> <p class="text-ellipsis-2">Mengyu Tan, Jiaming Xue, Qiushuo Wu, Yazi Zheng, Guihong Liu, Ranran Zhang, Mengna Wu, Jinlong Song, Yuanyuan Xiao, Dezhi Chen, Meili Lv, Miao Liao, Shengqiu Qu, Weibo Liang</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/2465.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study developed and evaluated a panel of highly polymorphic markers, composed of insertion and deletion polymorphisms (InDels) and adjacent single nucleotide polymorphisms (SNPs), for DNA mixture analysis. The panel demonstrated high allele detection rates and had the capability to enhance routine mixture analysis, making it a valuable tool for forensic applications. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">ELECTROPHORESIS</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/33951175/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/28372699" class="text-dark hover-underline">Evaluation of microhaplotype panels for complex kinship analysis using massively parallel sequencing</a> </h4> <p class="text-ellipsis-2">Jiaming Xue, Mengyu Tan, Ranran Zhang, Dezhi Chen, Guihong Liu, Yazi Zheng, Qiushuo Wu, Yuanyuan Xiao, Miao Liao, Shengqiu Qu, Weibo Liang</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/2908.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Microhaplotypes (MHs) have gained significant attention in forensic genetics. In this study, a 67plex MH panel (Panel B) was developed for kinship analysis, and its performance was compared with two other panels. Panel C, formed by combining Panels A and B, showed better performance in differentiating close relatives and unrelated individuals. The panels presented herein could provide supplementary power for the analysis of complex kinship. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/28372699/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biotechnology & Applied Microbiology </span> </div> <h4> <a href="https://www.peeref.com/works/84183026" class="text-dark hover-underline">Developmental and validation of a novel small and high-efficient panel of microhaplotypes for forensic genetics by the next generation sequencing</a> </h4> <p class="text-ellipsis-2">Changyun Gu, Weipeng Huo, Xiaolan Huang, Li Chen, Shunyi Tian, Qianchong Ran, Zheng Ren, Qiyan Wang, Meiqing Yang, Jingyan Ji, Yubo Liu, Min Zhong, Kang Wang, Danlu Song, Jiang Huang, Hongling Zhang, Xiaoye Jin</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/1255.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> A novel and high-efficient panel for forensic genetics was developed, which includes 33 microhaplotype loci and one sex-determining locus. The forensic utility of this panel was evaluated in the Guizhou Han population, and it was found to be effective in kinship analysis and mixture deconvolution, with the ability to distinguish different kinship relationships. However, there was some uncertainty in distinguishing first cousins and unrelated individuals. In addition, the panel also performed well in estimating the number of contributors in mixed samples. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">BMC GENOMICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84183026/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Microbiology </span> </div> <h4> <a href="https://www.peeref.com/works/33855487" class="text-dark hover-underline">Development and validation of a next-generation sequencing assay with open-access analysis software for detecting resistance-associated mutations in CMV</a> </h4> <p class="text-ellipsis-2">Melanie A. Mallory, Weston C. Hymas, Keith E. Simmon, Michael T. Pyne, Jeffery B. Stevenson, Adam P. Barker, David R. Hillyard, Kimberly E. Hanson</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/4318.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study developed and validated an amplicon-based Ion Torrent NGS method for simultaneous analysis of CMV resistance mutations in multiple genes. Compared to standard Sanger sequencing, the NGS assay had a low error rate and high accuracy, and generated high-quality sequence from low viral load specimens. The assay showed excellent agreement with Sanger and detected resistance mutations missed by Sanger in low-frequency variants. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">JOURNAL OF CLINICAL MICROBIOLOGY</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/33855487/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemistry & Molecular Biology </span> </div> <h4> <a href="https://www.peeref.com/works/27379010" class="text-dark hover-underline">Cost-Effective Next Generation Sequencing-Based STR Typing with Improved Analysis of Minor, Degraded and Inhibitor-Containing DNA Samples</a> </h4> <p class="text-ellipsis-2">Sara-Sophie Poethe, Julia Holtel, Jan-Philip Biermann, Trine Riemer, Melanie Grabmueller, Burkhard Madea, Ralf Thiele, Richard Jaeger</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/3812.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Forensic DNA profiles are typically established using multiplex PCR amplification and capillary electrophoresis (CE) analysis, but high-throughput next generation sequencing (NGS) techniques have recently been used as an alternative. In this study, an alternative NGS assay called maSTR assay was developed that is cost-effective and performs well in samples with low DNA content, mixed DNA, or PCR inhibitors. The maSTR assay, in conjunction with the SNiPSTR bioinformatics pipeline, is a simple and robust NGS-based STR typing method for human identification in forensic and biomedical contexts. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/27379010/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Review </span> <span class="d-inline-block badge badge-cyan"> Oncology </span> </div> <h4> <a href="https://www.peeref.com/works/26636415" class="text-dark hover-underline">A Clinician's Guide to Bioinformatics for Next-Generation Sequencing</a> </h4> <p class="text-ellipsis-2">Nicholas Bradley Larson, Ann L. Oberg, Alex A. Adjei, Liguo Wang</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/5380.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Next-generation sequencing (NGS) technologies, widely used in cancer research, generate vast and diverse data that require sophisticated computational methods and bioinformatics expertise. This review provides background details of NGS technology and basic bioinformatics concepts for clinicians interested in cancer research applications, with a focus on DNA-based approaches. It introduces principles of library preparation, alignment, variant calling, variant annotations, and NGS applications for other molecular data types. The review also discusses the utility of NGS methods in NSCLC research and study design considerations for leveraging NGS technologies in clinical care. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">JOURNAL OF THORACIC ONCOLOGY</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/26636415/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biochemistry & Molecular Biology </span> </div> <h4> <a href="https://www.peeref.com/works/28382823" class="text-dark hover-underline">Forensic genetic analysis of single-nucleotide polymorphisms and microhaplotypes in Koreans through next-generation sequencing using precision ID identity panel</a> </h4> <p class="text-ellipsis-2">Soo-Bin Yang, Ji Eun Lee, Hwan Young Lee</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/3009.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated the SNPs of the Precision ID Identity Panel for personal identification in a Korean population and compared them with other global populations. The results showed that the panel had high discriminatory power and could be used as an alternative to traditional STR analysis. The study also revealed a close genetic relationship between Koreans and individuals from China and Myanmar in East and Southeast Asia. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">GENES & GENOMICS</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/28382823/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Medicine, General & Internal </span> </div> <h4> <a href="https://www.peeref.com/works/82896414" class="text-dark hover-underline">Comparison of Two Variant Analysis Programs for Next-Generation Sequencing Data of Whole Mitochondrial Genome</a> </h4> <p class="text-ellipsis-2">Seung Eun Lee, Ga Eun Kim, Hajin Kim, Doo Hyun Chung, Soong Deok Lee, Moon-Young Kim</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/4722.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study compared two commercial programs for variant calling of NGS data and used a large amount of sequence data from homogeneous ethnic samples. The results showed that the consistency of the two programs was approximately 90%, with CS having some advantages in forensic use. Through visual inspection, several causes of differences in variant calling results were identified, including different notation rules for mitochondrial sequences and minor allele frequencies close to the detection threshold. The study conclusion emphasizes the importance of understanding the characteristics of the analysis program and preparing strategies to determine variants. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">JOURNAL OF KOREAN MEDICAL SCIENCE</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/82896414/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Medical Laboratory Technology </span> </div> <h4> <a href="https://www.peeref.com/works/28290772" class="text-dark hover-underline">Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening</a> </h4> <p class="text-ellipsis-2">Bennett Oh Vic Shum, Carel Jacobus Pretorius, Letitia Min Fen Sng, Ilya Henner, Paulette Barahona, Emre Basar, Jim McGill, Urs Wilgen, Anna Zournazi, Lilian Downie, Natalie Taylor, Liam Cheney, Sylvania Wu, Natalie Angela Twine, Denis Carolin Bauer, Gerald Francis Watts, Akash Navilebasappa, Kishore Rajagopal Kumar, Jacobus Petrus Johannes Ungerer, Glenn Bennett</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/1801.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> The study found that newborn screening can be expanded using targeted gene sequencing (TGS), which is a feasible and cost-effective method. The TGS assay had a high sensitivity (>99%) and specificity (100%) with a turnaround time of 7 to 10 days and a maximum batch size of 1536 samples. This approach can increase the number of conditions screened and improve the effectiveness of newborn screening programs. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">CLINICAL CHEMISTRY</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/28290772/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Pediatrics </span> </div> <h4> <a href="https://www.peeref.com/works/28857087" class="text-dark hover-underline">Metagenomic next-generation sequencing in a diagnosis of Pneumocystis pneumonia in an X-linked immunodeficient child: a case report</a> </h4> <p class="text-ellipsis-2">Lu Qing, Yufei Zhao, Ye Zhang, Yuanlin Guan, Guoyan Lu</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/10251.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This case report highlights the value of mNGS in diagnosing PCP when conventional diagnostic methods fail to identify the agent. Early onset of recurrent infectious diseases may indicate the presence of an immunodeficiency disease, for which timely genetic analysis and diagnosis are crucial. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FRONTIERS IN PEDIATRICS</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/28857087/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Biotechnology & Applied Microbiology </span> </div> <h4> <a href="https://www.peeref.com/works/28603559" class="text-dark hover-underline">The chemistry of next-generation sequencing</a> </h4> <p class="text-ellipsis-2">Raphael Rodriguez, Yamuna Krishnan</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/6055.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This article reviews the historical development of next-generation sequencing chemistry, highlighting the significant impact of the underlying chemical principles on biology. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">NATURE BIOTECHNOLOGY</span> (2023) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/28603559/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Review </span> <span class="d-inline-block badge badge-cyan"> Chemistry, Multidisciplinary </span> </div> <h4> <a href="https://www.peeref.com/works/81985509" class="text-dark hover-underline">Advancement of Next-Generation DNA Sequencing through Ionic Blockade and Transverse Tunneling Current Methods</a> </h4> <p class="text-ellipsis-2">Rameshwar L. Kumawat, Milan Kumar Jena, Sneha Mittal, Biswarup Pathak</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/7524.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This paper reviews the progress in the field of DNA sequencing, focusing on electrical detection methods, including ionic blockade and transverse tunneling current approaches. It discusses various biological nanopores and solid-state devices for DNA sequencing, and highlights the strengths, weaknesses, and future directions of single-molecule DNA sequencing. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">SMALL</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/81985509/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Chemistry, Multidisciplinary </span> </div> <h4> <a href="https://www.peeref.com/works/22420559" class="text-dark hover-underline">Next-generation sequencing-based analysis of the effect of N6-methyldeoxyadenosine modification on DNA replication in human cells</a> </h4> <p class="text-ellipsis-2">Juan Wang, Yuwei Sheng, Ying Yang, Xiaoxia Dai, Changjun You</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/1701.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study found that the N-6-methyldeoxyadenosine (6mdA) modification has minimal impact on the efficiency and accuracy of DNA replication in human cells. Depletion of specific DNA polymerases also did not significantly alter the biological consequences of 6mdA during replication. These results support the potential role of 6mdA in epigenetic gene expression. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">CHINESE CHEMICAL LETTERS</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/22420559/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Microbiology </span> </div> <h4> <a href="https://www.peeref.com/works/25370124" class="text-dark hover-underline">HIV-1 Drug Resistance Assay Using Ion Torrent Next Generation Sequencing and On-Instrument End-to-End Analysis Software</a> </h4> <p class="text-ellipsis-2">Michael T. Pyne, Keith E. Simmon, Melanie A. Mallory, Weston C. Hymas, Jeffery Stevenson, Adam P. Barker, David R. Hillyard</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/4318.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> HIV-1 antiretroviral therapy management requires sequencing of different portions of the HIV-1 pol gene. Traditional Sanger sequencing has limited ability to detect minor variants. Next generation sequencing enables detection of variants at frequencies as low as 1%, allowing for earlier detection of resistance. However, implementation of NGS in the clinical laboratory is hindered by complicated design and analysis. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">JOURNAL OF CLINICAL MICROBIOLOGY</span> (2022) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/25370124/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 "> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Food Science & Technology </span> </div> <h4> <a href="https://www.peeref.com/works/83096160" class="text-dark hover-underline">Application of next generation semiconductor based sequencing for species identification and meat derived products authentication</a> </h4> <p class="text-ellipsis-2">Muyi He, Shige Xing, Guihong Yao, Meiyi Yao, Xiaofen Wen, Yun Ling, Wei Guo</p> <div class="d-flex mb-3"> <div class="flex-shrink-0 d-none d-sm-block"> <img src="https://peeref-open.s3.amazonaws.com/storage/images/covers/2893.jpg" alt="" class="border mr-3" width="100"> </div> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study used next-generation sequencing technology to identify species in meat products. Nucleic acid extraction, targeted amplification, and bioinformatics analysis were used to determine the species composition. The results showed that the technology was accurate and sensitive, detecting 1% of animal components in mixed samples, and some commercial products had species inconsistent with their labels. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FOOD CONTROL</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83096160/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> </div> <div id="articles_from_authors" class="tab-pane "> <div class="nodata my-4">No Data Available</div> </div> <div id="articles_from_journal" class="tab-pane "> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84361787" class="text-dark hover-underline">CRISPR-Cas technology in forensic investigations: Principles, applications, and ethical considerations</a> </h4> <p class="text-ellipsis-2">Ana Filipa Sobral, Ricardo Jorge Dinis-Oliveira, Daniel Jose Barbosa</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> CRISPR-Cas systems are adaptive immune systems in bacteria, and CRISPR-Cas-based technologies can be used for precise genome editing. Forensic science is used to investigate and solve legal issues, and CRISPR-Cas-based methods have potential applications in the field of forensic science, but also raise ethical concerns and potential abuse of personal genetic information. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84361787/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83532016" class="text-dark hover-underline">Dense SNP-based analyses complement forensic anthropology biogeographical ancestry assessments</a> </h4> <p class="text-ellipsis-2">Sammed N. Mandape, Bruce Budowle, Heather McKiernan, Donia Slack, Sarah Mittelman, Kristen Mittelman, David Mittelman</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Forensic anthropological examinations can estimate the ancestry of human remains, but they have limitations. Genome-wide SNP testing provides a more accurate method for ancestry estimation. The study found inconsistencies between anthropological and genomic ancestry estimates, especially for admixed populations. Further validation studies and policy improvements are crucial for improving the accuracy of ancestry estimation and reducing misinformation. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83532016/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83533129" class="text-dark hover-underline">Shotgun DNA sequencing for human identification: Dynamic SNP selection and likelihood ratio calculations accounting for errors</a> </h4> <p class="text-ellipsis-2">Mikkel Meyer Andersen, Marie-Louise Kampmann, Alberte Honore Jepsen, Niels Morling, Poul Svante Eriksen, Claus Bursting, Jeppe Dyrberg Andersen</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This paper presents a statistical model for human identification using shotgun sequencing data, which takes into account the sequencing error rate and can be applied to highly degraded low-quality DNA samples. An open-source R package, wgsLR, is also introduced for implementing the method. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83533129/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84342778" class="text-dark hover-underline">SMART: STR Mixture Analysis and Resolution Tools</a> </h4> <p class="text-ellipsis-2">Xianchao Ji, Lianjiang Chi, Lan Wu Chen, Jianchao Chen, Anxin Yan, Yongjiu Li, Zheng Tu, Jian Ye, Hua Chen</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This article presents SMART, a software for analyzing STR mixture profiles developed within the fully continuous model framework. SMART integrates multiple models and offers various functions, such as likelihood ratio calculation, genotype resolution, and database search. Its performance was evaluated using laboratory samples and the PROVEDIt dataset, showing high sensitivity, specificity, and precision, as well as computational efficiency. SMART is expected to be a valuable tool in forensic investigations, improving the accuracy and reliability of criminal justice outcomes. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84342778/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83225861" class="text-dark hover-underline">Profiling age and body fluid DNA methylation markers using nanopore adaptive sampling</a> </h4> <p class="text-ellipsis-2">Zaka Wing-Sze Yuen, Somasundhari Shanmuganandam, Maurice Stanley, Simon Jiang, Nadine Hein, Runa Daniel, Dennis McNevin, Cameron Jack, Eduardo Eyras</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> DNA methylation plays a crucial role in physiological processes and can be used as a biomarker for body fluid identification and age prediction. Current methylation detection methods rely on various techniques and markers, requiring specialized DNA preparation and biochemical treatments. This study used nanopore adaptive sampling technology to simultaneously identify age-associated and body fluid-specific methylation markers without the need for specialized DNA preparation or biochemical treatments. The technology was consistent with whole-genome bisulfite sequencing data and identified new sites strongly correlated with age. This study lays the foundation for the development of nanopore-based methods for age prediction and body fluid identification. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83225861/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83599477" class="text-dark hover-underline">The role of cats in human DNA transfer</a> </h4> <p class="text-ellipsis-2">Heidi Monkman, Roland A. H. van Oorschot, Mariya Goray</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated whether cats are reservoirs and vectors for human DNA transfer. The results showed that human DNA was prevalent on all cats, and its distribution followed a certain pattern. In addition, short-term patting contact could lead to the transfer of human DNA to cats. These findings suggest that we should consider the role of animals in DNA reporting and collect DNA evidence from animals in cases involving interactions between animals and perpetrators. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83599477/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84866026" class="text-dark hover-underline">Uncovering genetic signatures of the Walser migration in the Alps: Patterns of diversity and differentiation</a> </h4> <p class="text-ellipsis-2">Peter Resutik, Joelle Schneider, Simon Aeschbacher, Magnus Dehli Vigeland, Mario Gysi, Corinne Moser, Chiara Barbieri, Paul Widmer, Mathias Currat, Adelgunde Kratzer, Michael Kruetzen, Cordula Haas, Natasha Arora</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated the genetic diversity and differentiation of the Walser people. By comparing samples from Walser, Walser-homeland, and non-Walser Alpine communities, as well as an idealized Swiss reference population, it was found that Walser-homeland and Walser communities showed low to moderate genetic differentiation from other communities, with more remote communities showing stronger differentiation. Additionally, the rare haplogroup W6 was identified in the Walser communities. This study contributes to understanding the genetic characteristics of the Walser people, but also highlights the need for more comprehensive research. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84866026/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84265916" class="text-dark hover-underline">Towards the identification of body fluids using RT-LAMP isothermal amplification coupled with CRISPR-Cas12a</a> </h4> <p class="text-ellipsis-2">Courtney R. H. Lynch, Olivia L. Martin, Craig Billington, Rachel Fleming</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This paper describes a new technique for the detection of body fluids that combines RT-LAMP amplification with CRISPR-mediated fluorescent detection to rapidly detect mRNA markers in body fluids at a single temperature. The technique has high sensitivity and specificity and can be used for body fluid identification in forensic screening laboratories. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84265916/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83112863" class="text-dark hover-underline">Improved individual identification in DNA mixtures of unrelated or related contributors through massively parallel sequencing</a> </h4> <p class="text-ellipsis-2">Zhiyong Liu, Enlin Wu, Ran Li, Jiajun Liu, Yu Zang, Bin Cong, Riga Wu, Bo Xie, Hongyu Sun</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study evaluated the impact of potential kinship on individual identification, including MPS performance, the influence of genetic markers on kinship and NOC inference, the probability distribution of MAC and TAC, trends in LR values, and comparisons of length- and sequence-based STR genotypes. Results showed that multiple genetic markers improved the accuracy of kinship and NOC inference, the LR value of the POI depended on the mixing ratio, and the correct kinship hypothesis yielded more conservative LR values. In addition, using sequence-based STR genotypes increased the power of individual identification and the accuracy of mixture ratio inference. The MGIEasy Signature Identification Library Prep kit demonstrated robust individual identification capabilities and is suitable for forensic DNA mixture interpretation. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83112863/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83911917" class="text-dark hover-underline">A preliminary study on detecting human DNA in aquatic environments: Potential of eDNA in forensics</a> </h4> <p class="text-ellipsis-2">Marie Antony Dass, Craig D. H. Sherman, Roland A. H. van Oorschot, Dadna Hartman, Gemma Carter, Annalisa Durdle</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated the detection and degradation rates of human eDNA in saltwater and freshwater samples, as well as the recovery of STR profiles and mtDNA sequencing. Results showed that human eDNA could be detected for up to 36-84 hours in water samples, with a detection limit of 205 copies/μl. Partial STR profiles could be recovered within 24 hours, and full mtDNA profiles could be recovered from freshwater samples within 48 hours and remained detectable for up to 72 hours in saltwater. This study emphasizes the importance of considering and incorporating human eDNA analysis in forensic practice. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83911917/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84482295" class="text-dark hover-underline">Benchmarking for genotyping and imputation using degraded DNA for forensic applications across diverse populations</a> </h4> <p class="text-ellipsis-2">Elena I. Zavala, Rori V. Rohlfs, Priya Moorjani</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study investigated computational methods for handling degraded DNA in forensic applications. By simulating sequencing data of varying qualities, the performance of common genotyping and imputation methods was tested on different SNP panels. The results showed that parameters and methods developed for ancient DNA analysis performed better in degraded DNA analysis. Additionally, using a population reference panel representative of worldwide populations improved genotyping accuracy, but the low SNP density of commonly used forensic SNP panels could impact the reliability of the analysis. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84482295/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84819293" class="text-dark hover-underline">The (in)dependence of single-cell data inferences on model constructs</a> </h4> <p class="text-ellipsis-2">Catherine M. Grgicak, Klaas Slooten, Robert G. Cowell, Qhawe Bhembe, Desmond S. Lun</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> Single-cell analysis is important in forensics, but different models may interpret the data differently. This study compared the weight of evidence on single-cell electropherograms among three models and found that they were mostly consistent, but there were some differences in some cases. The study also found that extreme stuttering was the main cause of the differences and proposed some interpretive adaptations to improve the situation. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84819293/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84919066" class="text-dark hover-underline">Independent evaluation of an 11-CpG panel for age estimation in blood</a> </h4> <p class="text-ellipsis-2">Mie Rath Refn, Marie-Louise Kampmann, Agnes Vyoni, Jacob Tfelt-Hansen, Erik Sorensen, Sisse Rye Ostrowski, Mette Kongstad, Anastasia Aliferi, Federica Giangasparo, Niels Morling, David Ballard, Claus Borsting, Vania Pereira</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study evaluated the 11-CpG panel for age estimation and optimized it. The optimized panel was used to type Danish blood samples, and the results showed that DNA methylation at the 11 CpG loci was significantly correlated with age. A Danish age prediction model was constructed and compared with the original model, and the results were similar, but the original model had a bias towards underestimation, while the new model did not. The assay can reasonably accurately estimate the age of a single-source donor. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84919066/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 border-bottom"> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/83547292" class="text-dark hover-underline">Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform</a> </h4> <p class="text-ellipsis-2">Man Chen, Chong Chen, Ning Li, Yuerong Su, Wei Cui, Yan Huang, Meiming Cai, Bofeng Zhu</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> This study evaluated a novel mtDNA whole genome sequencing system using long fragment amplification strategy on the DNA nanoball sequencing platform. The system demonstrated high sequencing quality and specific mtDNA sequencing efficiencies on positive control DNA and FTA bloodstain samples. In addition, the system sequencing efficiency was also confirmed among different kinds of samples. In summary, the system showed high performance in analyzing mtDNA sequence information, and had great prospects in forensic application and maternal genetic research. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2024) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/83547292/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> <div class="my-4 "> <div> <span class="d-inline-block badge badge-blue"> Article </span> <span class="d-inline-block badge badge-cyan"> Genetics & Heredity </span> </div> <h4> <a href="https://www.peeref.com/works/84044753" class="text-dark hover-underline">TigerBase: A DNA registration system to enhance enforcement and compliance testing of captive tiger facilities</a> </h4> <p class="text-ellipsis-2">Kyle M. Ewart, Frankie T. Sitam, Nur Alizati Nabila Binti Giarat Ali, Rob Ogden, Kelly I. Morgan, Hieu M. Tran, Thanh P. T. Bui, Truong Q. Nguyen, Son G. Nguyen, Norsyamimi Rosli, Kitichaya Penchart, Kanita Ouitavon, Ross McEwing</p> <div class="d-flex mb-3"> <div class="p-3 rounded bg-light-blue"> <strong>Summary:</strong> TigerBase is a standardized wildlife forensic DNA profiling system for captive tigers, consisting of 60 SNP markers, including autosomal nuclear markers, sex-linked markers, and mtDNA markers. The system has been developed and validated in four South-East Asian countries and is recognized as a key tool for monitoring the compliance of captive facilities, supporting tiger trade investigations, and improving prosecution outcomes. </div> </div> <div class="d-flex justify-content-between"> <p class="font-weight-bold"> <span class="text-primary">FORENSIC SCIENCE INTERNATIONAL-GENETICS</span> (2025) </p> <div class="flex-shrink-0"> <a class="btn btn-outline-primary btn-sm" href="https://www.peeref.com/works/84044753/add-to-collection" target="_blank"> <strong>Add to Collection</strong> </a> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="modal fade" id="export-citation" tabindex="-1"> <div class="modal-dialog"> <div class="modal-content"> <div class="modal-header"> <button type="button" class="close" data-dismiss="modal"><span>×</span></button> <h4 class="modal-title">Export Citation <b class="text-primary"></b></h4> </div> <div class="modal-body"> <div 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