{"id":458,"date":"2013-01-25T19:52:06","date_gmt":"2013-01-25T19:52:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=458"},"modified":"2026-02-25T20:19:00","modified_gmt":"2026-02-25T20:19:00","slug":"mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/","title":{"rendered":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard)"},"content":{"rendered":"<p>Leukodystrophies are a group of hereditary neurodegenerative disorders characterized by abnormal white matter on brain imaging. Hypomyelinating leukodystrophies are a subtype of leukodystrophies caused by abnormal myelin deposition. Recently, our group reported that mutations in <i>POLR3A<\/i> and <i>POLR3B <\/i>genes were responsible for four hypomyelinating leukodystrophies with or without dental abnormalities and delayed puberty, and are now referred as Pol III-related leukodystrophies. The objective of this study was to determine the frequency of <i>POLR3A<\/i> and <i>POLR3B<\/i> mutations in patients with typical clinical and\/or radiologic features of Pol III-related leukodystrophies. To do so, we sequenced the <i>POLR3A<\/i> and\/or <i>POLR3B<\/i> genes in fourteen patients and found mutations in all fourteen patients, including eight novel mutations in <i>POLR3A<\/i> and seven novel mutations in <i>POLR3B<\/i>. To date, our group has described 37 patients, of whom 27 have mutations in <i>POLR3A<\/i> and 10 in <i>POLR3B, <\/i>respectively. Altogether, our results further support that <i>POLR3A<\/i> and <i>POLR3B<\/i> mutations are a major cause of hypomyelinating leukodystrophies and suggest that <i>POLR3A<\/i> mutations are more frequent. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/24\/jmedgenet-2012-101357\">http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/24\/jmedgenet-2012-101357<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Leukodystrophies are a group of hereditary neurodegenerative disorders characterized by abnormal white matter on brain imaging. Hypomyelinating leukodystrophies are a subtype of leukodystrophies caused by abnormal myelin deposition. Recently, our group reported that mutations in POLR3A and POLR3B genes were responsible for four hypomyelinating leukodystrophies with or without dental abnormalities and delayed puberty, and are [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/\">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-458","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard) - 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\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Leukodystrophies are a group of hereditary neurodegenerative disorders characterized by abnormal white matter on brain imaging. Hypomyelinating leukodystrophies are a subtype of leukodystrophies caused by abnormal myelin deposition. Recently, our group reported that mutations in POLR3A and POLR3B genes were responsible for four hypomyelinating leukodystrophies with or without dental abnormalities and delayed puberty, and are [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-01-25T19:52:06+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:19:00+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\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\\\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard)\",\"datePublished\":\"2013-01-25T19:52:06+00:00\",\"dateModified\":\"2026-02-25T20:19:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/\"},\"wordCount\":214,\"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\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/\",\"name\":\"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\\\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2013-01-25T19:52:06+00:00\",\"dateModified\":\"2026-02-25T20:19:00+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/01\\\/25\\\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\\\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard)\"}]},{\"@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":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard) - 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\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/","og_locale":"en_US","og_type":"article","og_title":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard) - JMG Contact blog","og_description":"Leukodystrophies are a group of hereditary neurodegenerative disorders characterized by abnormal white matter on brain imaging. Hypomyelinating leukodystrophies are a subtype of leukodystrophies caused by abnormal myelin deposition. Recently, our group reported that mutations in POLR3A and POLR3B genes were responsible for four hypomyelinating leukodystrophies with or without dental abnormalities and delayed puberty, and are [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/","og_site_name":"JMG Contact blog","article_published_time":"2013-01-25T19:52:06+00:00","article_modified_time":"2026-02-25T20:19:00+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\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard)","datePublished":"2013-01-25T19:52:06+00:00","dateModified":"2026-02-25T20:19:00+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/"},"wordCount":214,"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\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/","name":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2013-01-25T19:52:06+00:00","dateModified":"2026-02-25T20:19:00+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/01\/25\/mutations-in-polr3a-and-polr3b-are-a-major-cause-of-hypomyelinating-leukodystrophies-with-or-without-dental-abnormalities-andor-hypogonadotropic-hypogonadism\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and\/or hypogonadotropic hypogonadism (Contributed by Dr. Genevi\u00e8ve Bernard)"}]},{"@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\/458","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=458"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/458\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=458"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=458"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=458"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}