{"id":573,"date":"2013-07-23T18:37:59","date_gmt":"2013-07-23T18:37:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=573"},"modified":"2026-02-25T20:01:20","modified_gmt":"2026-02-25T20:01:20","slug":"delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/","title":{"rendered":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna)"},"content":{"rendered":"

Mutations in at least 17 different genes can cause amyotrophic lateral sclerosis (ALS), and mutations in a further 16 are likely to increase susceptibility. \u00a0In the most extensive study of its kind, we used modern DNA sequencing to characterize the relative contributions of these 33 disease genes to the risk of developing ALS in Ireland. We found that at least \u00a017% of people with ALS carried mutations that might be disease causing, and that \u00a09.7% carried mutations that have been previously established as causative . We also found that multiple mutations can occur in the same individual and may be required to trigger disease onset. Finally, we found that the spectrum of disease mutations among Irish patients differed significantly from that reported across other European populations, suggesting that some forms of ALS may be population specific. (http:\/\/jmg.bmj.com\/content\/early\/2013\/07\/23\/jmedgenet-2013-101795<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Mutations in at least 17 different genes can cause amyotrophic lateral sclerosis (ALS), and mutations in a further 16 are likely to increase susceptibility. \u00a0In the most extensive study of its kind, we used modern DNA sequencing to characterize the relative contributions of these 33 disease genes to the risk of developing ALS in Ireland. […]<\/p>\n

Read More…<\/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-573","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nDelineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna) - 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\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in at least 17 different genes can cause amyotrophic lateral sclerosis (ALS), and mutations in a further 16 are likely to increase susceptibility. \u00a0In the most extensive study of its kind, we used modern DNA sequencing to characterize the relative contributions of these 33 disease genes to the risk of developing ALS in Ireland. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-07-23T18:37:59+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:01:20+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\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna)\",\"datePublished\":\"2013-07-23T18:37:59+00:00\",\"dateModified\":\"2026-02-25T20:01:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/\"},\"wordCount\":152,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/\",\"name\":\"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2013-07-23T18:37:59+00:00\",\"dateModified\":\"2026-02-25T20:01:20+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/07\\\/23\\\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna)\"}]},{\"@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":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna) - 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\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/","og_locale":"en_US","og_type":"article","og_title":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna) - JMG Contact blog","og_description":"Mutations in at least 17 different genes can cause amyotrophic lateral sclerosis (ALS), and mutations in a further 16 are likely to increase susceptibility. \u00a0In the most extensive study of its kind, we used modern DNA sequencing to characterize the relative contributions of these 33 disease genes to the risk of developing ALS in Ireland. [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/","og_site_name":"JMG Contact blog","article_published_time":"2013-07-23T18:37:59+00:00","article_modified_time":"2026-02-25T20:01:20+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\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna)","datePublished":"2013-07-23T18:37:59+00:00","dateModified":"2026-02-25T20:01:20+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/"},"wordCount":152,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/","name":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2013-07-23T18:37:59+00:00","dateModified":"2026-02-25T20:01:20+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/07\/23\/delineating-the-genetic-heterogeneity-of-als-using-targeted-high-throughput-sequencing\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (Contributed by Kevin Kenna)"}]},{"@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\/573","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=573"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/573\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=573"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=573"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=573"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}