{"id":1376,"date":"2019-11-13T15:07:57","date_gmt":"2019-11-13T15:07:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1376"},"modified":"2026-02-24T00:23:39","modified_gmt":"2026-02-24T00:23:39","slug":"homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/","title":{"rendered":"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang)"},"content":{"rendered":"<p>Abnormal pronuclear formation during fertilization and subsequent early embryonic arrest result in female infertility. In recent years, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilization, and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilization and early embryonic arrest remain largely unknown. In this study, we identified two novel homozygous mutations in REC114 in two independent consanguineous families with female infertility. We performed functional studies on effects of mutations. Our findings reveal the important roles of REC114 in human oocyte meiosis and female fertility. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/10\/11\/jmedgenet-2019-106379\">https:\/\/jmg.bmj.com\/content\/early\/2019\/10\/11\/jmedgenet-2019-106379<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/untitled-23\/\" rel=\"attachment wp-att-1384\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1384\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-300x275.jpg\" alt=\"\" width=\"300\" height=\"275\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-300x275.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-768x703.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-1024x938.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-640x586.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2.jpg 1210w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Abnormal pronuclear formation during fertilization and subsequent early embryonic arrest result in female infertility. In recent years, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilization, and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilization and early embryonic arrest remain [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/\">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-1376","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>Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang) - 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\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Abnormal pronuclear formation during fertilization and subsequent early embryonic arrest result in female infertility. In recent years, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilization, and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilization and early embryonic arrest remain [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-11-13T15:07:57+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:23:39+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1210\" \/>\n\t<meta property=\"og:image:height\" content=\"1108\" \/>\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\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang)\",\"datePublished\":\"2019-11-13T15:07:57+00:00\",\"dateModified\":\"2026-02-24T00:23:39+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/11\\\/Untitled-2-300x275.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/\",\"name\":\"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/11\\\/Untitled-2-300x275.jpg\",\"datePublished\":\"2019-11-13T15:07:57+00:00\",\"dateModified\":\"2026-02-24T00:23:39+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/11\\\/Untitled-2.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/11\\\/Untitled-2.jpg\",\"width\":1210,\"height\":1108},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang)\"}]},{\"@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":"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang) - 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\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/","og_locale":"en_US","og_type":"article","og_title":"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang) - JMG Contact blog","og_description":"Abnormal pronuclear formation during fertilization and subsequent early embryonic arrest result in female infertility. In recent years, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilization, and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilization and early embryonic arrest remain [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/","og_site_name":"JMG Contact blog","article_published_time":"2019-11-13T15:07:57+00:00","article_modified_time":"2026-02-24T00:23:39+00:00","og_image":[{"width":1210,"height":1108,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2.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\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang)","datePublished":"2019-11-13T15:07:57+00:00","dateModified":"2026-02-24T00:23:39+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/"},"wordCount":128,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-300x275.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/","name":"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2-300x275.jpg","datePublished":"2019-11-13T15:07:57+00:00","dateModified":"2026-02-24T00:23:39+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Untitled-2.jpg","width":1210,"height":1108},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/homozygous-mutations-in-rec114-cause-female-infertility-characterised-by-multiple-pronuclei-formation-and-early-embryonic-arrest\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest (Contributed by Dr. Lei Wang)"}]},{"@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\/1376","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=1376"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1376\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1376"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1376"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1376"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}