{"id":1261,"date":"2019-03-29T13:53:38","date_gmt":"2019-03-29T13:53:38","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1261"},"modified":"2026-02-24T00:43:58","modified_gmt":"2026-02-24T00:43:58","slug":"whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/","title":{"rendered":"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard)"},"content":{"rendered":"<p>Balanced chromosomal rearrangements associated with intellectual disability and \/ or malformations are rare events but are still challenging for genetic counselling since breakpoints characterisation is not performed routinely. We used whole genome sequencing to characterise the breakpoints of chromosomal rearrangements in 55 patients with ID\/M. We were able to identify the rearrangement in 49\/55 patients (89%) and we provided a diagnosis for 22\/49 patients (44.8%). This strategy may be used in a clinical setting and may improve the management of patients with balanced chromosomal rearrangement. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/28\/jmedgenet-2018-105778\">https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/28\/jmedgenet-2018-105778<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/schluthbolard-figure-jmg-blog\/\" rel=\"attachment wp-att-1262\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-1262\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg\" alt=\"\" width=\"261\" height=\"194\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Balanced chromosomal rearrangements associated with intellectual disability and \/ or malformations are rare events but are still challenging for genetic counselling since breakpoints characterisation is not performed routinely. We used whole genome sequencing to characterise the breakpoints of chromosomal rearrangements in 55 patients with ID\/M. We were able to identify the rearrangement in 49\/55 patients [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/\">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-1261","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>Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard) - 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\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Balanced chromosomal rearrangements associated with intellectual disability and \/ or malformations are rare events but are still challenging for genetic counselling since breakpoints characterisation is not performed routinely. We used whole genome sequencing to characterise the breakpoints of chromosomal rearrangements in 55 patients with ID\/M. We were able to identify the rearrangement in 49\/55 patients [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-03-29T13:53:38+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:43:58+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"261\" \/>\n\t<meta property=\"og:image:height\" content=\"194\" \/>\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\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard)\",\"datePublished\":\"2019-03-29T13:53:38+00:00\",\"dateModified\":\"2026-02-24T00:43:58+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/\"},\"wordCount\":111,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/SchluthBolard-Figure-JMG-Blog.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/\",\"name\":\"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/SchluthBolard-Figure-JMG-Blog.jpg\",\"datePublished\":\"2019-03-29T13:53:38+00:00\",\"dateModified\":\"2026-02-24T00:43:58+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/SchluthBolard-Figure-JMG-Blog.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/SchluthBolard-Figure-JMG-Blog.jpg\",\"width\":261,\"height\":194},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/29\\\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard)\"}]},{\"@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":"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard) - 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\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/","og_locale":"en_US","og_type":"article","og_title":"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard) - JMG Contact blog","og_description":"Balanced chromosomal rearrangements associated with intellectual disability and \/ or malformations are rare events but are still challenging for genetic counselling since breakpoints characterisation is not performed routinely. We used whole genome sequencing to characterise the breakpoints of chromosomal rearrangements in 55 patients with ID\/M. We were able to identify the rearrangement in 49\/55 patients [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/","og_site_name":"JMG Contact blog","article_published_time":"2019-03-29T13:53:38+00:00","article_modified_time":"2026-02-24T00:43:58+00:00","og_image":[{"width":261,"height":194,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg","type":"image\/jpeg"}],"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\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard)","datePublished":"2019-03-29T13:53:38+00:00","dateModified":"2026-02-24T00:43:58+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/"},"wordCount":111,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/","name":"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg","datePublished":"2019-03-29T13:53:38+00:00","dateModified":"2026-02-24T00:43:58+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/SchluthBolard-Figure-JMG-Blog.jpg","width":261,"height":194},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/29\/whole-genome-paired-end-sequencing-elucidates-functional-and-phenotypic-consequences-of-balanced-chromosomal-rearrangement-in-patients-with-developmental-disorders\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders (Contributed by Dr. Caroline Schluth-Bolard)"}]},{"@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\/1261","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=1261"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1261\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1261"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1261"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1261"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}