{"id":607,"date":"2013-12-16T20:28:53","date_gmt":"2013-12-16T20:28:53","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=607"},"modified":"2026-02-25T19:55:09","modified_gmt":"2026-02-25T19:55:09","slug":"paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/16\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\/","title":{"rendered":"Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (Contributed by Dr. Roddy Walsh)"},"content":{"rendered":"<p>As genetic testing of inherited diseases becomes ever more widely used, distinguishing between true disease-causing mutations and innocuous rare genetic variants is a critical issue in clinical genetics. Our new analysis method transfers known clinical mutations between evolutionarily related proteins, or paralogues, allowing us to identify mutations that affect parts of the protein intolerant to variation and therefore likely to be disease causing. Applying this method to two large published studies on genetic heart disease, we have classified over one-third of the novel variants found as pathogenic mutations, variants whose significance would otherwise be uncertain. This method is widely applicable across inherited genetic diseases. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/10\/17\/jmedgenet-2013-101917\">http:\/\/jmg.bmj.com\/content\/early\/2013\/10\/17\/jmedgenet-2013-101917<\/a> )<a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2013\/12\/Figure-1-Blog.gif\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-608\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2013\/12\/Figure-1-Blog-300x207.gif\" alt=\"Figure-1-Blog\" width=\"300\" height=\"207\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>As genetic testing of inherited diseases becomes ever more widely used, distinguishing between true disease-causing mutations and innocuous rare genetic variants is a critical issue in clinical genetics. Our new analysis method transfers known clinical mutations between evolutionarily related proteins, or paralogues, allowing us to identify mutations that affect parts of the protein intolerant to [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/16\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\/\">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-607","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>Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (Contributed by Dr. Roddy Walsh) - 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\/2013\/12\/16\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (Contributed by Dr. Roddy Walsh) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"As genetic testing of inherited diseases becomes ever more widely used, distinguishing between true disease-causing mutations and innocuous rare genetic variants is a critical issue in clinical genetics. Our new analysis method transfers known clinical mutations between evolutionarily related proteins, or paralogues, allowing us to identify mutations that affect parts of the protein intolerant to [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/12\/16\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-12-16T20:28:53+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:55:09+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2013\/12\/Figure-1-Blog.gif\" \/>\n\t<meta property=\"og:image:width\" content=\"882\" \/>\n\t<meta property=\"og:image:height\" content=\"609\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/gif\" \/>\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\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (Contributed by Dr. Roddy Walsh)\",\"datePublished\":\"2013-12-16T20:28:53+00:00\",\"dateModified\":\"2026-02-25T19:55:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/\"},\"wordCount\":133,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2013\\\/12\\\/Figure-1-Blog-300x207.gif\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/12\\\/16\\\/paralogue-annotation-identifies-novel-pathogenic-variants-in-patients-with-brugada-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia\\\/\",\"name\":\"Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (Contributed by Dr. Roddy Walsh) - 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