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Applied Variant Interpretation (MEDG 585) | Graduate Certificate in Genomic Counselling
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Working with real data sets and a clinical lens, build on knowledge to determine variant pathogenicity and clinical significance. Through a critical appraisal of bioinformatics tools, databases, guidelines, and functional studies, gain a deeper appreciation of research and clinically-oriented variant interpretation." /> <link rel="canonical" href="https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/" /> <meta property="og:locale" content="en_US" /> <meta property="og:type" content="article" /> <meta property="og:title" content="Applied Variant Interpretation (MEDG 585) | Graduate Certificate in Genomic Counselling" /> <meta property="og:description" content="Develop technical and critical thinking skills necessary to move from a curated candidate gene list obtained through genome-wide sequencing (GWS) to a likely diagnosis. Working with real data sets and a clinical lens, build on knowledge to determine variant pathogenicity and clinical significance. Through a critical appraisal of bioinformatics tools, databases, guidelines, and functional studies, gain a deeper appreciation of research and clinically-oriented variant interpretation." /> <meta property="og:url" content="https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/" /> <meta property="og:site_name" content="Department of Medical Genetics" /> <meta property="article:modified_time" content="2024-10-11T23:40:14+00:00" /> <meta property="og:image" content="https://med-fom-medgen.sites.olt.ubc.ca/files/2020/06/Untitled-design-360x240.jpg" /> <meta name="twitter:card" content="summary_large_image" /> <meta name="twitter:label1" content="Est. reading time" /> <meta name="twitter:data1" content="1 minute" /> <script type="application/ld+json" class="yoast-schema-graph">{"@context":"https://schema.org","@graph":[{"@type":"WebPage","@id":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/","url":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/","name":"Applied Variant Interpretation (MEDG 585) | Graduate Certificate in Genomic Counselling","isPartOf":{"@id":"https://medgen.med.ubc.ca/#website"},"primaryImageOfPage":{"@id":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/#primaryimage"},"image":{"@id":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/#primaryimage"},"thumbnailUrl":"https://med-fom-medgen.sites.olt.ubc.ca/files/2020/06/Untitled-design-360x240.jpg","datePublished":"2020-06-08T21:47:58+00:00","dateModified":"2024-10-11T23:40:14+00:00","description":"Develop technical and critical thinking skills necessary to move from a curated candidate gene list obtained through genome-wide sequencing (GWS) to a likely diagnosis. 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Through a critical appraisal of bioinformatics tools, databases, guidelines, and functional studies, gain a deeper appreciation of research and clinically-oriented variant interpretation.","breadcrumb":{"@id":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/#primaryimage","url":"https://med-fom-medgen.sites.olt.ubc.ca/files/2020/06/Untitled-design-360x240.jpg","contentUrl":"https://med-fom-medgen.sites.olt.ubc.ca/files/2020/06/Untitled-design-360x240.jpg"},{"@type":"BreadcrumbList","@id":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https://medgen.med.ubc.ca/"},{"@type":"ListItem","position":2,"name":"Graduate Certificate in Genomic Counselling and Variant Interpretation","item":"https://medgen.med.ubc.ca/genomic-certificate/"},{"@type":"ListItem","position":3,"name":"Program Overview","item":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/"},{"@type":"ListItem","position":4,"name":"Curriculum & Courses","item":"https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/"},{"@type":"ListItem","position":5,"name":"Applied Variant Interpretation (MEDG 585)"}]},{"@type":"WebSite","@id":"https://medgen.med.ubc.ca/#website","url":"https://medgen.med.ubc.ca/","name":"Department of Medical Genetics","description":"Advancing Genetics Based Medicine","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https://medgen.med.ubc.ca/?s={search_term_string}"},"query-input":"required name=search_term_string"}],"inLanguage":"en-US"}]}</script> <!-- / Yoast SEO plugin. --> <meta name="description" content="MEDG 580 is a required pre-requisite. Last Course Offering: January – April 2025 Registration is ongoing until the first week of January 2025. Credits: 3 Develop technical and critical thinking skills necessary to move from a curated candidate gene list obtained through genome-wide sequencing (GWS) to a likely diagnosis. Working with real data sets and […]" /> <meta name="google-site-verification" content="RMbVDdPZTDXUqwyN9i2xOCm5FfoPqaGanzb0XKgIUw0" /> <link rel='dns-prefetch' href='//cdn.ubc.ca' /> <link rel='dns-prefetch' href='//cloud.typography.com' /> <script type="text/javascript"> /* <![CDATA[ */ window._wpemojiSettings = {"baseUrl":"https:\/\/s.w.org\/images\/core\/emoji\/15.0.3\/72x72\/","ext":".png","svgUrl":"https:\/\/s.w.org\/images\/core\/emoji\/15.0.3\/svg\/","svgExt":".svg","source":{"concatemoji":"https:\/\/medgen.med.ubc.ca\/wp-includes\/js\/wp-emoji-release.min.js?ver=6.6.2"}}; /*! 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Medical Genetics" rel="home" class="trail-begin">Home</a> <span class="divider">»</span> <a href="https://medgen.med.ubc.ca/genomic-certificate/" title="Graduate Certificate in Genomic Counselling and Variant Interpretation">Graduate Certificate in Genomic Counselling and Variant Interpretation</a> <span class="divider">»</span> <a href="https://medgen.med.ubc.ca/genomic-certificate/programoverview/" title="Program Overview">Program Overview</a> <span class="divider">»</span> <a href="https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/" title="Curriculum & Courses">Curriculum & Courses</a> <span class="divider">»</span> <span class="trail-end">Applied Variant Interpretation (MEDG 585)</span></div><div class="expand row-fluid" role="main"> <div id="primary-secondary" class="sidebar aside span3"> <div id="primary"> <div id="section-35" class="widget section-widget widget-section-widget"><div class="widget-wrap widget-inside"><img 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class='accordion-inner'> <a href='https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg580/'><div class='ubc7-arrow right-arrow'></div> Genomic Testing and Clinical Bioinformatics (MEDG 580)</a> <a class=' opened' href='https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg585/'><div class='ubc7-arrow right-arrow'></div> Applied Variant Interpretation (MEDG 585)</a> <a href='https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg590/'><div class='ubc7-arrow right-arrow'></div> Evidence-based Genomic Counselling (MEDG 590)</a> <a href='https://medgen.med.ubc.ca/genomic-certificate/programoverview/curriculum/medg595/'><div class='ubc7-arrow right-arrow'></div> Emerging Genomic Topics (MEDG 595)</a> </div><!-- end_inner --> </div><!-- end_body --> </div> <!-- close level --> <a href='https://medgen.med.ubc.ca/genomic-certificate/programoverview/continuing-education-units/'><div class='ubc7-arrow right-arrow'></div> Continuing Education Units</a> </div><!-- end_inner --> </div><!-- end_body --> </div> <!-- close level --> </div> <!-- close of accordion-group --> <div class='single'> <a href='https://medgen.med.ubc.ca/genomic-certificate/tuition/'><div class='ubc7-arrow right-arrow'></div> Tuition & Financial Aid</a> </div> <!-- Close of single/Head --> <!-- Parent 11448 --> <div class='accordion-group'> <div class='accordion-heading subpages-navi-node supages-navi-level-0'> <a class='accordion-toggle' data-toggle='collapse' href='#accordion-olt-subpages-navigation-widget-211448' role='button' aria-haspopup='true' aria-expanded='true' aria-label='expand Admissions menu'><div class='ubc7-arrow down-arrow' aria-hidden='true'></div></a> <a class='link' href='https://medgen.med.ubc.ca/genomic-certificate/admissions/'>Admissions</a> </div> <!-- Close of single/Head --> <div id='accordion-olt-subpages-navigation-widget-211448' class='accordion-body collapse'> <div class='accordion-inner'> <a href='https://medgen.med.ubc.ca/genomic-certificate/admissions/apply/'><div class='ubc7-arrow right-arrow'></div> How To Apply</a> </div><!-- end_inner --> </div><!-- end_body --> </div> <!-- close level --> <div class='single'> <a href='https://medgen.med.ubc.ca/genomic-certificate/contact/'><div class='ubc7-arrow right-arrow'></div> Contact Us</a> </div> <!-- Close of single/Head --> <div class='single'> <a href='https://medgen.med.ubc.ca/genomic-certificate/register-for-information-session/'><div class='ubc7-arrow right-arrow'></div> FAQs</a> </div> <!-- Close of single/Head --> </div> </div></div> </div><!-- #primary --> <div id="secondary"> </div><!-- #secondary --> </div><!-- #primary-secondary .aside --> <div id="content" class="hfeed content span9"> <div id="post-11559" class="hentry page publish post-1 odd author-shur-lim"> <h1 class='page-title entry-title'>Applied Variant Interpretation (MEDG 585)</h1> <div class="entry-content"> <h4><strong>MEDG 580 is a required pre-requisite.</strong></h4> <h4><strong>Last Course Offering: January – April 2025</strong></h4> <p><i><span style="font-size: 12pt;">Registration is ongoing until the first week of January 2025.</span></i><i><span style="font-size: 12pt;"> </span></i></p> <h4><strong>Credits: 3</strong></h4> <p><img fetchpriority="high" decoding="async" class="size-medium wp-image-11837 aligncenter" src="https://med-fom-medgen.sites.olt.ubc.ca/files/2020/06/Untitled-design-360x240.jpg" alt="MEDG585: Applied Variant Interpretation" width="360" height="240" srcset="https://medgen.med.ubc.ca/files/2020/06/Untitled-design-360x240.jpg 360w, https://medgen.med.ubc.ca/files/2020/06/Untitled-design-940x627.jpg 940w, https://medgen.med.ubc.ca/files/2020/06/Untitled-design-768x512.jpg 768w, https://medgen.med.ubc.ca/files/2020/06/Untitled-design-1536x1024.jpg 1536w, https://medgen.med.ubc.ca/files/2020/06/Untitled-design-2048x1365.jpg 2048w, https://medgen.med.ubc.ca/files/2020/06/Untitled-design-150x100.jpg 150w" sizes="(max-width: 360px) 100vw, 360px" /></p> <p>Develop technical and critical thinking skills necessary to move from a curated candidate gene list obtained through genome-wide sequencing (GWS) to a likely diagnosis. Working with real data sets and a clinical lens, build on knowledge to determine variant pathogenicity and clinical significance. Through a critical appraisal of bioinformatics tools, databases, guidelines, and functional studies, gain a deeper appreciation of research and clinically-oriented variant interpretation.</p> <h4><strong>Learning outcomes:</strong></h4> <ol> <li>Systematically appraise candidate variant lists to identify a likely causative variant.</li> <li>Select and discriminate between databases, tools, literature, and best practices to determine variant pathogenicity.</li> <li>Assess and present genomic findings, including evidence for and against specific variants and potential clinical significance.</li> <li>Differentiate between research and clinical variant interpretation processes, and categorize the strengths and limitations of GWS in each setting.</li> </ol> </div><!-- .entry-content --> </div><!-- .hentry --> <div id="utility-after-content" class="sidebar utility "> </div><!-- #utility-after-content .utility --> </div><!-- .content .hfeed --> </div> </div><!-- #container --> </div> <div class="row-fluid expand content"> <div id="subsidiary" class="sidebar aside span-12"> <div id="block-3" class="widget widget_block widget-widget_block"><div class="widget-wrap widget-inside"> <figure class="wp-block-table aligncenter"><table><tbody><tr><td><strong>Medical Genetics Graduate Program</strong><br><strong>Phone:</strong> 604-822-5312<br><strong>Email: </strong><a href="mailto:medical.genetics@ubc.ca">medical.genetics@ubc.ca</a></td><td>⠀⠀</td><td><strong>MSc Genetic Counselling Program</strong><br><strong>Phone:</strong> 604-875-3486<br><strong>Email: </strong><a href="mailto:medgeneducation@cw.bc.ca">medgeneducation@cw.bc.ca</a></td><td>⠀⠀</td><td><strong>Graduate Certificate in<br>Genomic Counselling and Variant</strong> <strong>Interpretation</strong><br><strong>Phone:</strong> 604-875-3486<br><strong>Email: </strong><a href="mailto:genomiccounselling.info@ubc.ca">genomiccounselling.info@ubc.ca</a></td></tr></tbody></table></figure> </div></div> </div><!-- #subsidiary .aside --> </div><!-- .row-fluid --> <!-- CLF Footer --> <footer id="ubc7-footer" class="expand" role="contentinfo"> <div class="row-fluid expand" id="ubc7-unit-footer"> <div class="container"> <div class="span10" id="ubc7-unit-address"> <div id="ubc7-address-unit-name">UBC Department of Medical Genetics</div> <div id="ubc7-address-street"> </div> <div id="ubc7-address-location"> <span id="ubc7-address-city">Vancouver</span>, <span id="ubc7-address-province">BC</span> <span id="ubc7-address-country">Canada</span> <span id="ubc7-address-postal"> </span> </div> </div> </div> </div> <div class="row-fluid expand ubc7-back-to-top"> <div class="container"> <div class="span2"> <a href="#" title="Back to top">Back to top <div class="ubc7-arrow up-arrow grey"></div></a> </div> </div> </div> <div class="row-fluid expand" id="ubc7-global-footer"> <div class="container"> <div class="span5" id="ubc7-signature"><a href="https://www.ubc.ca/" title="The University of British Columbia (UBC)">The University of British Columbia</a></div> <div class="span7" id="ubc7-footer-menu"> </div> </div> </div> <div class="row-fluid expand" id="ubc7-minimal-footer"> <div class="container"> <div class="span12"> <ul> <li><a href="https://cdn.ubc.ca/clf/ref/emergency" title="Emergency Procedures">Emergency Procedures</a> <span class="divider">|</span></li> <li><a href="https://cdn.ubc.ca/clf/ref/terms" title="Terms of Use">Terms of Use</a> <span class="divider">|</span></li> <li><a href="https://cdn.ubc.ca/clf/ref/copyright" title="UBC Copyright">Copyright</a> <span class="divider">|</span></li> <li><a href="https://cdn.ubc.ca/clf/ref/accessibility" title="Accessibility">Accessibility</a></li> </ul> </div> </div> </div> </footer> <!-- End of CLF Footer --> </div><!-- #body-container --> <script type="text/javascript"> jQuery(function () { jQuery('.section-widget-tabbed .nav-tabs a, widget-inside .nav-tabs a').click(function (e) { e.preventDefault(); 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