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<!DOCTYPE html> <html class=""> <head> <title></title> <meta charset="utf-8"> <!--<meta http-equiv="Content-Type" content="text/html; charset=utf-8"/>--> <!--<meta lang="$locale">--> <meta http-equiv="X-UA-Compatible" content="IE=edge"> <meta name="google-site-verification" content="9-QVycOO2_ob3Z9QzRmXv2CF08A9oyYXqWyTiVdKPlU" /> <!-- This is commented out to fix display problems on mobile devices. We may use it again once we implement a responsive design that supports native device resolutions. <meta name="viewport" content="width=device-width"> --> <meta name="viewport" content="width=device-width, initial-scale=1, maximum-scale=1"> <link rel="alternate" title="Recent articles published in F1000Research" href="/rss" type="application/rss+xml"> <meta name="description" content="Read the full document on F1000Research: Using Bioinformatics to Understand Genetic Diseases" /> <meta name="citation_title" content="<p>Using Bioinformatics to Understand Genetic Diseases</p>"> <meta name="citation_journal_title" content="F1000Research"> <meta name="citation_authors" content="Blatter, Marie-Claude ; Palagi, Patricia M.; Attwood, Teresa K.; The GOBLET Foundation"> <meta name="citation_author" content="Marie-Claude Blatter"> <meta name="citation_author" content="Patricia M. Palagi"> <meta name="citation_author" content="Teresa K. Attwood"> <meta name="citation_author" content="The GOBLET Foundation"> <meta name="citation_date" content="2019/03/11"> <meta name="citation_volume" content="8"> <meta name="citation_publication_number" content="272"> <meta name="citation_version_number" content="1"> <meta name="citation_doi" content="10.7490/f1000research.1116468.1"> <meta name="dc.identifier" content="doi:10.7490/f1000research.1116468.1"> <meta name="citation_pdf_url" content="https://f1000research.com/documents/8-272/pdf"> <meta name="article-id" content="1116468"> <meta name="dc.title" content="Using Bioinformatics to Understand Genetic Diseases"> <meta name="dc.subject" content="Bioinformatics for schools, basic bioinformatics, genetic mutation, gene finding, sequence alignment, sequence database searching, insulin structure, training material"> <meta name="dc.creator" content="Blatter, Marie-Claude "> <meta name="citation_author_institution" content="SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"> <meta name="dc.creator" content="Palagi, Patricia M."> <meta name="citation_author_institution" content="SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland"> <meta name="dc.creator" content="Attwood, Teresa K."> <meta name="citation_author_institution" content="The University of Manchester, Manchester, UK"> <meta name="dc.creator" content="The GOBLET Foundation"> <meta name="dc.date" content="2019/03/11"> <meta name="dc.source" content="F1000Research 2019 8:272"> <meta name="dc.format" content="application/pdf"> <meta name="dc.language" content="en"> <meta name="dc.publisher" content="F1000 Research Limited"> <meta name="dc.rights" content="https://creativecommons.org/licenses/by/4.0/"> <meta name="dc.type" content="text"> <meta name="prism.keyword" content="Bioinformatics"> <meta name="prism.keyword" content="for"> <meta name="prism.keyword" content="schools,"> <meta name="prism.keyword" content="basic"> <meta name="prism.keyword" content="bioinformatics,"> <meta name="prism.keyword" content="genetic"> <meta name="prism.keyword" content="mutation,"> <meta name="prism.keyword" content="gene"> <meta name="prism.keyword" content="finding,"> <meta name="prism.keyword" content="sequence"> <meta name="prism.keyword" content="alignment,"> <meta name="prism.keyword" content="sequence"> <meta name="prism.keyword" content="database"> <meta name="prism.keyword" content="searching,"> <meta name="prism.keyword" content="insulin"> <meta name="prism.keyword" content="structure,"> <meta name="prism.keyword" content="training"> <meta name="prism.keyword" content="material"> <meta name="prism.publication.Name" content="F1000Research"> <meta name="prism.publicationDate" content="2019"> <meta name="prism.volume" content="8"> <meta name="prism.number" content="272"> <meta name="prism.doi" content="10.7490/f1000research.1116468.1"> <meta name="prism.url" content="https://f1000research.com/documents/8-272"> <meta name="citation_title" content="Using Bioinformatics to Understand Genetic Diseases"> <meta name="citation_abstract" content="This Practical Guide in the Bringing Bioinformatics into the Classroom series outlines a number of basic bioinformatics approaches that can be used to understand the molecular basis of genetic diseases. A rare variation in the insulin gene is discussed, and the impact of the variation on the gene product, and how this results in disease, is explored.<br /><br />Specifically, this Guide introduces a range of commonly used bioinformatics tools and databases with which to analyse both DNA and protein sequences, and protein structures.&nbsp;On reading the Guide and completing the exercises, users will&nbsp;be able to: <ul> <li>investigate the locations of genes on the human genome using a genome browser;</li> <li>compare DNA sequences using an alignment tool;</li> <li>translate a DNA sequence into its protein product;</li> <li>search a protein structure database, and visualise the 3D structure of insulin; and</li> <li>infer whether insulin is specific to humans by using protein sequence database search tools.</li> </ul>"> <meta name="citation_keywords" content="Bioinformatics for schools, basic bioinformatics, genetic mutation, gene finding, sequence alignment, sequence database searching, insulin structure, training material"> <meta name="citation_journal_title" content="Using Bioinformatics to Understand Genetic Diseases"> <meta name="citation_publication_date" content="2019/03/11"> <meta name="citation_firstpage" content="272"> <meta name="og:title" content="Document: Using Bioinformatics to Understand Genetic Diseases has been published by F1000Research."> <meta name="og:description" content="Read this work by Attwood TK, at F1000Research."> <meta name="og:image" content="/img/sharing/og_research.png"> <link href="/img/favicon-research.ico" rel="shortcut icon" type="image/ico"> <link href="/img/favicon-research.ico" rel="icon" type="image/ico"> <link rel="stylesheet" href="/1732096892736/css/mdl/material-design-lite-research.css" type="text/css" media="all" /> <link href="https://fonts.googleapis.com/icon?family=Material+Icons" rel="stylesheet"> <link href="https://fonts.googleapis.com/css?family=Roboto:100,100i,300,300i,400,400i,500,500i,700,700i,900,900i" rel="stylesheet"> <link rel="stylesheet" href="/1732096892736/css/Research.css" type="text/css" media="all" /> <link rel="stylesheet" href="/css/F1000ResearchFontIcons/F1000ResearchFontIcons.css" type="text/css" media="all" /> <link rel="stylesheet" href="/css/F1000ResearchFontIcons/animation.css" type="text/css" media="all" /> <!--[if IE 7]><link rel="stylesheet" href="/css/F1000ResearchFontIcons/F1000ResearchFontIcons-ie7.css" media="all" /><![endif]--> <!-- f1000research.com --> <!-- false --> <!-- OneTrust Cookies Consent Notice start for f1000research.com --> <script src="https://cdn.cookielaw.org/consent/1bc074d1-3db4-47ed-9f80-df1a4a3f2ab4/OtAutoBlock.js" type="text/javascript"></script> <script src="https://cdn.cookielaw.org/scripttemplates/otSDKStub.js" type="text/javascript" charset="UTF-8" data-domain-script="1bc074d1-3db4-47ed-9f80-df1a4a3f2ab4"></script> <script type="text/javascript"> function OptanonWrapper() {} </script> <!-- OneTrust Cookies Consent Notice end for --> <script> dataLayer = []; </script> <!-- Google Tag Manager --> <script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start': new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0], j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src= 'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f); })(window,document,'script','dataLayer','GTM-PCBS9JK');</script> <!-- End Google Tag Manager --> <script type="text/javascript"> ;window.NREUM||(NREUM={});NREUM.init={distributed_tracing:{enabled:true},privacy:{cookies_enabled:true},ajax:{deny_list:["bam.nr-data.net"]}}; ;NREUM.loader_config={accountID:"438030",trustKey:"438030",agentID:"772317073",licenseKey:"97f8f67f26",applicationID:"772317073"} ;NREUM.info={beacon:"bam.nr-data.net",errorBeacon:"bam.nr-data.net",licenseKey:"97f8f67f26",applicationID:"772317073",sa:1} ;/*! 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heading9 small" data-test-id="mob_copy-citation_text" > Blatter MC, Palagi PM, Attwood TK and The GOBLET Foundation. Using Bioinformatics to Understand Genetic Diseases [version 1; not peer reviewed]. <i>F1000Research</i> 2019, <b>8</b>:272 (document) (<a href="https://doi.org/10.7490/f1000research.1116468.1" target="_blank">https://doi.org/10.7490/f1000research.1116468.1</a>) </div> <div class="toolbox-section-divider"></div> <div class="toolbox-section-content text-content heading9 small"> NOTE: <em>it is important to ensure the information in <b>square brackets after the title</b> is included in this citation.</em> </div> <div class="toolbox-section-content"> <button class="primary orange extra-padding copy-cite-article-mobile js-clipboard" title="Copy the current citation details." data-clipboard-target="#citation-copy-mobile" data-test-id="mob_copy-citation_button" >COPY CITATION DETAILS</button> </div> </div> <div class="toolbox-section share"> <div class="toolbox-section-heading no-top-border">Share</div> <div class="toolbox-section-divider"></div> <div class="toolbox-section-content"> <div > <a target="_blank" class="f1r-shares-icon-square f1r-shares-twitter" title="Share on Twitter"></a> <a target="_blank" class="f1r-shares-icon-square f1r-shares-facebook" title="Share on Facebook"></a> <a target="_blank" class="f1r-shares-icon-square f1r-shares-linkedin" title="Share on LinkedIn"></a> <a target="_blank" class="f1r-shares-icon-square f1r-shares-reddit" title="Share on Reddit"></a> <a target="_blank" class="f1r-shares-icon-square f1r-shares-mendelay" title="Share on Mendeley"></a> </div> </div> </div> </div> <!-- end of small screen only --> <div class="asset-details-container asset-details-container-large asset-title DOCUMENT"> <div class="asset-document-type">Technical report</div> <h1> <p>Using Bioinformatics to Understand Genetic Diseases</p> </h1> </div> <div class="asset-details-container asset-details-container-large with-divider"> <div class="asset-details DOCUMENT"> <div class="asset-detail-content"> <div class="asset-authors"> Marie-Claude Blatter<sup>1</sup>, Patricia M. 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Attwood</span></a><sup>3</sup>, The GOBLET Foundation </div> <div> <span class="asset-published-date">Published 11 Mar 2019</span> (<a href="https://doi.org/10.7490/f1000research.1116468.1">https://doi.org/10.7490/f1000research.1116468.1</a>) </div> </div> </div> </div> <div class="asset-subcontainer asset-subcontainer--large asset-subcontainer--border asset-subcontainer--border-top is-open"> <div class="asset-subcontainer__title">Author Affiliations</div> <div class="asset-subcontainer__content asset-subcontainer__content--copyright"> <div class="author-affiliations"> <sup>1</sup> SIB Swiss Institute of Bioinformatics, Geneva, Switzerland <br> <sup>2</sup> SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland <br> <sup>3</sup> The University of Manchester, Manchester, UK <br> </div> <div class="copyright margin-top asset-subcontainer__content--small"> <span class="copywrite-icon float-left" style="pointer-events: none"> <span class="f1r-icon icon-100_open_access"></span> </span> <span class="icon-text float-left copyright"> Copyright 漏 2019 Blatter MC <em>et al</em>. 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Palagi<sup>2</sup>, <a href="mailto:teresa.k.attwood@manchester.ac.uk" title="Send email"><span class='f1r-icon icon-6_email orange'></span><span class="author" style='padding-left: 25px;'>Teresa K. Attwood</span></a><sup>3</sup>, The GOBLET Foundation </div> </div> </div> </div> <!-- for mobile --> <div class="asset-subcontainer asset-subcontainer--small asset-subcontainer--border asset-subcontainer--border-top is-open"> <div class="asset-subcontainer__title">Author Affiliations</div> <div class="asset-subcontainer__content"> <div class="author-affiliations"> <sup>1</sup> SIB Swiss Institute of Bioinformatics, Geneva, Switzerland <br> <sup>2</sup> SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland <br> <sup>3</sup> The University of Manchester, Manchester, UK <br> </div> </div> </div> <div class="asset-resp-container"> <div class="abstract abstract--nobg"> <div class="abstract__title abstract__title--noborder">Abstract</div> <div class="abstract__content"> <input id="summary-text-field" type="hidden" value="This Practical Guide in the Bringing Bioinformatics into the Classroom series outlines a number of basic bioinformatics approaches that can be used to understand the molecular basis of genetic diseases. A rare variation in the insulin gene is discussed, and the impact of the variation on the gene product, and how this results in disease, is explored.<br /><br />Specifically, this Guide introduces a range of commonly used bioinformatics tools and databases with which to analyse both DNA and protein sequences, and protein structures. On reading the Guide and completing the exercises, users will be able to: <ul> <li>investigate the locations of genes on the human genome using a genome browser;</li> <li>compare DNA sequences using an alignment tool;</li> <li>translate a DNA sequence into its protein product;</li> <li>search a protein structure database, and visualise the 3D structure of insulin; and</li> <li>infer whether insulin is specific to humans by using protein sequence database search tools.</li> </ul>" /> </div> </div> <div class="asset-subcontainer asset-subcontainer--border asset-subcontainer--border-top is-open"> <div class="asset-subcontainer__title">Competing Interests</div> <div class="asset-subcontainer__content asset-subcontainer__content--small"> <p>I am one of the GOBLET advisors for the F1000Research Bioinformatics Education and Training Collection.</p> </div> </div> <div class="asset-subcontainer is-open"> <div class="asset-subcontainer__title">Keywords</div> <div class="asset-subcontainer__content asset-subcontainer__content--small"> Bioinformatics for schools, basic bioinformatics, genetic mutation, gene finding, sequence alignment, sequence database searching, insulin structure, training material </div> </div> <div class="asset-details-container DOCUMENT asset-comments" > <div id="asset-comments-section" class="asset-details asset-comments DOCUMENT co"> <div class="cf margin-bottom-20"> <div class="asset-comments__title">Comments</div> <div class="asset-comments__counter info-box">0 Comments</div> <div class="asset-comments__action"> <span class="login-row"> <a href="/login?originalPath=%2Fdocuments%2F8-272&scrollTo=asset-comments-section" class="f1r-standard-link no-decoration">SIGN IN</a> OR <a href="/register?originalPath=%2Fdocuments%2F8-272&scrollTo=asset-comments-section" class="f1r-standard-link no-decoration">REGISTER</a> TO ADD YOUR COMMENT. </span> </div> </div> <div id="asset-new-comment" class="is-hidden asset-new-comment padding-20"> <p>All commenters must hold a formal affiliation as per our <a href="/about/policies#ps-commentspolicy" target="_blank">Policies</a>. The information that you give us will be displayed next to your comment.</p> <p> User comments must be in English, comprehensible and relevant to the article under discussion. We reserve the right to remove any comments that we consider to be inappropriate, offensive or otherwise in breach of the <a href="/about/legal/additionaltermsandconditions#usercomment" class="f1r-standard-link" target="_blank">User Comment Terms and Conditions</a>. Commenters must not use a comment for personal attacks. 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