{"id":1625,"date":"2021-04-20T14:35:56","date_gmt":"2021-04-20T14:35:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1625"},"modified":"2026-02-23T22:57:52","modified_gmt":"2026-02-23T22:57:52","slug":"data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/20\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\/","title":{"rendered":"Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository (Contributed by Chloe Mighton, MSc)"},"content":{"rendered":"<p>Genetic diagnostic laboratories classify DNA sequence variants based on available evidence, following guidelines for variant interpretation. Despite guidelines, laboratories may differ in how they classify the same variant, for example because of differences in how they apply the interpretation criteria. The Canadian Open Genetics Repository (COGR) is an online collaborative effort for data sharing and variant interpretation. Through COGR, laboratories shared variants to identify discordant variant interpretations. Laboratories reassessed their discordant variants to determine whether they could be reclassified. From baseline (before data sharing) to after data sharing and reassessment, concordance in variant classifications improved. This study highlights the importance of data sharing and periodic reassessment to improve concordance in variant interpretations across laboratories. Quality assurance programs such as COGR provide a standardized mechanism for laboratories to identify discordant variant interpretations, and are important as genetic testing is implemented more widely in clinical care. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/19\/jmedgenet-2021-107738\">https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/19\/jmedgenet-2021-107738<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/20\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\/figure-2-2\/\" rel=\"attachment wp-att-1626\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1626\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2-300x118.jpg\" alt=\"\" width=\"300\" height=\"118\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2-300x118.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2-1024x404.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2-768x303.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2-1536x606.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2-640x253.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2.jpg 1639w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetic diagnostic laboratories classify DNA sequence variants based on available evidence, following guidelines for variant interpretation. Despite guidelines, laboratories may differ in how they classify the same variant, for example because of differences in how they apply the interpretation criteria. The Canadian Open Genetics Repository (COGR) is an online collaborative effort for data sharing and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/20\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\/\">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-1625","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository (Contributed by Chloe Mighton, MSc) - 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\/2021\/04\/20\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository (Contributed by Chloe Mighton, MSc) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genetic diagnostic laboratories classify DNA sequence variants based on available evidence, following guidelines for variant interpretation. Despite guidelines, laboratories may differ in how they classify the same variant, for example because of differences in how they apply the interpretation criteria. The Canadian Open Genetics Repository (COGR) is an online collaborative effort for data sharing and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/20\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-04-20T14:35:56+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T22:57:52+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Figure-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1639\" \/>\n\t<meta property=\"og:image:height\" content=\"647\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository (Contributed by Chloe Mighton, MSc)\",\"datePublished\":\"2021-04-20T14:35:56+00:00\",\"dateModified\":\"2026-02-23T22:57:52+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/\"},\"wordCount\":174,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/04\\\/Figure-2-300x118.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/20\\\/data-sharing-to-improve-concordance-in-variant-interpretation-across-laboratories-results-from-the-canadian-open-genetics-repository\\\/\",\"name\":\"Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository (Contributed by Chloe Mighton, MSc) - 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