{"id":1250,"date":"2019-03-26T14:01:37","date_gmt":"2019-03-26T14:01:37","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1250"},"modified":"2026-02-24T00:47:00","modified_gmt":"2026-02-24T00:47:00","slug":"alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/","title":{"rendered":"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya)"},"content":{"rendered":"<p>Carriers of germ-line defects in\u00a0<em>PALB2\u00a0<\/em>have breast cancer risk estimates overlapping those of\u00a0<em>BRCA2<\/em>, and recommendations for risk reduction strategies are similar. Therefore, developing standardized criteria to identify pathogenic variants in\u00a0<em>PALB2<\/em>\u00a0without incurring overprediction is of paramount clinical relevance. Here, the ENIGMA consortium shows that comprehensive characterization of naturally occurring alternative splicing assists in this task by identifying four locations (the consensus acceptor site of\u00a0<em>PALB2<\/em> exons 2, 5, 7, and 10) in which genetic variants are not necessarily pathogenic. We conclude that the ACMG-AMP criterion of strong evidence of pathogenicity (PVS1) is not warranted for variants at these locations, and they require further exploration to assess their clinical significance.(<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/19\/jmedgenet-2018-105834\">https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/19\/jmedgenet-2018-105834<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/palb2_in-frame-alternative-splicing-and-protein-domains\/\" rel=\"attachment wp-att-1251\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1251\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains-300x88.jpg\" alt=\"\" width=\"300\" height=\"88\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains-300x88.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains-768x225.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains-640x188.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains.jpg 921w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Carriers of germ-line defects in\u00a0PALB2\u00a0have breast cancer risk estimates overlapping those of\u00a0BRCA2, and recommendations for risk reduction strategies are similar. Therefore, developing standardized criteria to identify pathogenic variants in\u00a0PALB2\u00a0without incurring overprediction is of paramount clinical relevance. Here, the ENIGMA consortium shows that comprehensive characterization of naturally occurring alternative splicing assists in this task by identifying [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/\">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-1250","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>Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya) - 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\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Carriers of germ-line defects in\u00a0PALB2\u00a0have breast cancer risk estimates overlapping those of\u00a0BRCA2, and recommendations for risk reduction strategies are similar. Therefore, developing standardized criteria to identify pathogenic variants in\u00a0PALB2\u00a0without incurring overprediction is of paramount clinical relevance. Here, the ENIGMA consortium shows that comprehensive characterization of naturally occurring alternative splicing assists in this task by identifying [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-03-26T14:01:37+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:47:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"921\" \/>\n\t<meta property=\"og:image:height\" content=\"270\" \/>\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\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya)\",\"datePublished\":\"2019-03-26T14:01:37+00:00\",\"dateModified\":\"2026-02-24T00:47:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/\"},\"wordCount\":136,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/PALB2_in-frame-alternative-splicing-and-protein-domains-300x88.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/\",\"name\":\"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/PALB2_in-frame-alternative-splicing-and-protein-domains-300x88.jpg\",\"datePublished\":\"2019-03-26T14:01:37+00:00\",\"dateModified\":\"2026-02-24T00:47:00+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/PALB2_in-frame-alternative-splicing-and-protein-domains.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/PALB2_in-frame-alternative-splicing-and-protein-domains.jpg\",\"width\":921,\"height\":270},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya)\"}]},{\"@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":"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya) - 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\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/","og_locale":"en_US","og_type":"article","og_title":"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya) - JMG Contact blog","og_description":"Carriers of germ-line defects in\u00a0PALB2\u00a0have breast cancer risk estimates overlapping those of\u00a0BRCA2, and recommendations for risk reduction strategies are similar. Therefore, developing standardized criteria to identify pathogenic variants in\u00a0PALB2\u00a0without incurring overprediction is of paramount clinical relevance. Here, the ENIGMA consortium shows that comprehensive characterization of naturally occurring alternative splicing assists in this task by identifying [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/","og_site_name":"JMG Contact blog","article_published_time":"2019-03-26T14:01:37+00:00","article_modified_time":"2026-02-24T00:47:00+00:00","og_image":[{"width":921,"height":270,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains.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\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya)","datePublished":"2019-03-26T14:01:37+00:00","dateModified":"2026-02-24T00:47:00+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/"},"wordCount":136,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains-300x88.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/","name":"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains-300x88.jpg","datePublished":"2019-03-26T14:01:37+00:00","dateModified":"2026-02-24T00:47:00+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/PALB2_in-frame-alternative-splicing-and-protein-domains.jpg","width":921,"height":270},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/alternative-splicing-and-acmg-amp-2015-based-classification-of-palb2-genetic-variants-an-enigma-report\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Alternative Splicing and ACMG-AMP-2015 Based Classification of PALB2 Genetic Variants: an ENIGMA Report (Contributed by Dr. Miguel de la Hoya)"}]},{"@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\/1250","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=1250"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1250\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1250"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1250"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1250"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}