{"id":1524,"date":"2020-08-26T15:41:00","date_gmt":"2020-08-26T15:41:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1524"},"modified":"2026-02-23T23:49:32","modified_gmt":"2026-02-23T23:49:32","slug":"biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/","title":{"rendered":"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi)"},"content":{"rendered":"

BRCA1<\/em> gene is associated with breast-ovarian cancer susceptibility, however, carrying two variants in this gene causes a condition recognized as a very rare form of Fanconi Anemia. Here we present clinical features of nine individuals carrying two variants in BRCA1 <\/em>gene, in order to understand the patients\u2019 health risk. Features include growth failure, small head size, skin spots, mild developmental delay and early onset solid tumors. Unlike \u201cclassic\u201d Fanconi Anemia, these patients do not show bone marrow failure. We hypothesize that disease class should be reframed and medical management should emphasize on detection of solid tumor and avoiding radiation exposure.\u00a0 (https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/25\/jmedgenet-2020-107198<\/a> )<\/p>\n

\"\"<\/a>
SONY DSC<\/figcaption><\/figure><\/p>\n","protected":false},"excerpt":{"rendered":"

BRCA1 gene is associated with breast-ovarian cancer susceptibility, however, carrying two variants in this gene causes a condition recognized as a very rare form of Fanconi Anemia. Here we present clinical features of nine individuals carrying two variants in BRCA1 gene, in order to understand the patients\u2019 health risk. Features include growth failure, small head […]<\/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-1524","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nBiallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi) - 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\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"BRCA1 gene is associated with breast-ovarian cancer susceptibility, however, carrying two variants in this gene causes a condition recognized as a very rare form of Fanconi Anemia. Here we present clinical features of nine individuals carrying two variants in BRCA1 gene, in order to understand the patients\u2019 health risk. Features include growth failure, small head [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-26T15:41:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:49:32+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Adela_Chirita-Emandi_Cv_picture.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1477\" \/>\n\t<meta property=\"og:image:height\" content=\"2097\" \/>\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\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi)\",\"datePublished\":\"2020-08-26T15:41:00+00:00\",\"dateModified\":\"2026-02-23T23:49:32+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/\"},\"wordCount\":140,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Adela_Chirita-Emandi_Cv_picture-211x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/\",\"name\":\"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Adela_Chirita-Emandi_Cv_picture-211x300.jpg\",\"datePublished\":\"2020-08-26T15:41:00+00:00\",\"dateModified\":\"2026-02-23T23:49:32+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Adela_Chirita-Emandi_Cv_picture.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Adela_Chirita-Emandi_Cv_picture.jpg\",\"width\":1477,\"height\":2097,\"caption\":\"SONY DSC\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/26\\\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi)\"}]},{\"@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":"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi) - 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\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/","og_locale":"en_US","og_type":"article","og_title":"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi) - JMG Contact blog","og_description":"BRCA1 gene is associated with breast-ovarian cancer susceptibility, however, carrying two variants in this gene causes a condition recognized as a very rare form of Fanconi Anemia. Here we present clinical features of nine individuals carrying two variants in BRCA1 gene, in order to understand the patients\u2019 health risk. Features include growth failure, small head [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/","og_site_name":"JMG Contact blog","article_published_time":"2020-08-26T15:41:00+00:00","article_modified_time":"2026-02-23T23:49:32+00:00","og_image":[{"width":1477,"height":2097,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Adela_Chirita-Emandi_Cv_picture.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\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi)","datePublished":"2020-08-26T15:41:00+00:00","dateModified":"2026-02-23T23:49:32+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/"},"wordCount":140,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Adela_Chirita-Emandi_Cv_picture-211x300.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/","url":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/","name":"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Adela_Chirita-Emandi_Cv_picture-211x300.jpg","datePublished":"2020-08-26T15:41:00+00:00","dateModified":"2026-02-23T23:49:32+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Adela_Chirita-Emandi_Cv_picture.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Adela_Chirita-Emandi_Cv_picture.jpg","width":1477,"height":2097,"caption":"SONY DSC"},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/26\/biallelic-variants-in-brca1-gene-cause-a-recognisable-phenotype-within-chromosomal-instability-syndromes-reframed-as-brca1-deficiency\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency (Contributed by Dr. Adela Chirita Emandi)"}]},{"@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\/1524","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=1524"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1524\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1524"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1524"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1524"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}