{"id":1304,"date":"2019-07-17T22:18:01","date_gmt":"2019-07-17T22:18:01","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1304"},"modified":"2026-02-24T00:36:26","modified_gmt":"2026-02-24T00:36:26","slug":"ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/","title":{"rendered":"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley)"},"content":{"rendered":"<p>The Canadian College of Medical Geneticists (CCMG) Laboratory Guidelines for Next-Generation Sequencing position statement provides guidance for the use of NGS in Canadian clinical genetic laboratories. The guidelines cover NGS applications for detection of variants in genomic DNA and mitochondrial DNA for inherited disorders, and for somatic variants in tumour DNA for acquired cancers. Intended users include clinical laboratories engaged in developing, validating and using NGS methods, as well as Canadian laboratory accreditation programs. The CCMG is a Canadian organization responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/07\/12\/jmedgenet-2019-106152\">https:\/\/jmg.bmj.com\/content\/early\/2019\/07\/12\/jmedgenet-2019-106152<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The Canadian College of Medical Geneticists (CCMG) Laboratory Guidelines for Next-Generation Sequencing position statement provides guidance for the use of NGS in Canadian clinical genetic laboratories. The guidelines cover NGS applications for detection of variants in genomic DNA and mitochondrial DNA for inherited disorders, and for somatic variants in tumour DNA for acquired cancers. Intended [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1304","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The Canadian College of Medical Geneticists (CCMG) Laboratory Guidelines for Next-Generation Sequencing position statement provides guidance for the use of NGS in Canadian clinical genetic laboratories. The guidelines cover NGS applications for detection of variants in genomic DNA and mitochondrial DNA for inherited disorders, and for somatic variants in tumour DNA for acquired cancers. Intended [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-07-17T22:18:01+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:36:26+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley)\",\"datePublished\":\"2019-07-17T22:18:01+00:00\",\"dateModified\":\"2026-02-24T00:36:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/\",\"name\":\"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2019-07-17T22:18:01+00:00\",\"dateModified\":\"2026-02-24T00:36:26+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/","og_locale":"en_US","og_type":"article","og_title":"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley) - JMG Contact blog","og_description":"The Canadian College of Medical Geneticists (CCMG) Laboratory Guidelines for Next-Generation Sequencing position statement provides guidance for the use of NGS in Canadian clinical genetic laboratories. The guidelines cover NGS applications for detection of variants in genomic DNA and mitochondrial DNA for inherited disorders, and for somatic variants in tumour DNA for acquired cancers. Intended [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/","og_site_name":"JMG Contact blog","article_published_time":"2019-07-17T22:18:01+00:00","article_modified_time":"2026-02-24T00:36:26+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley)","datePublished":"2019-07-17T22:18:01+00:00","dateModified":"2026-02-24T00:36:26+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/"},"wordCount":123,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/","name":"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2019-07-17T22:18:01+00:00","dateModified":"2026-02-24T00:36:26+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/ccmg-practice-guideline-laboratory-guidelines-for-next-generation-sequencing\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing (Contributed by Dr. Tracy Stockley)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1304","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1304"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1304\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1304"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1304"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1304"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}