{"id":554,"date":"2013-06-19T18:38:54","date_gmt":"2013-06-19T18:38:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=554"},"modified":"2026-02-25T20:07:28","modified_gmt":"2026-02-25T20:07:28","slug":"digenic-inheritance-in-medical-genetics","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/06\/19\/digenic-inheritance-in-medical-genetics\/","title":{"rendered":"Digenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer)"},"content":{"rendered":"

Digenic inheritance (DI) of a disease in a family means that the variants at two genes or loci explain which individuals are affected or unaffected more clearly than the genotypes at one locus alone.\u00a0 This article catalogs case studies of human DI, since the first such example was published in 1994. One objective is to evaluate which strategies to find DI worked best in the past. Another objective is to consider new possibilities of using high-throughput sequencing (HTS) and improved knowledge on protein-protein interactions (PPIs) to facilitate the discovery of new instances of DI. Researchers evaluating new possible instances of DI can use the catalog to compare the strength of their evidence to that of past DI case studies. (http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/18\/jmedgenet-2013-101713<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Digenic inheritance (DI) of a disease in a family means that the variants at two genes or loci explain which individuals are affected or unaffected more clearly than the genotypes at one locus alone.\u00a0 This article catalogs case studies of human DI, since the first such example was published in 1994. One objective is to […]<\/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-554","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nDigenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer) - 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\/06\/19\/digenic-inheritance-in-medical-genetics\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Digenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Digenic inheritance (DI) of a disease in a family means that the variants at two genes or loci explain which individuals are affected or unaffected more clearly than the genotypes at one locus alone.\u00a0 This article catalogs case studies of human DI, since the first such example was published in 1994. One objective is to [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/06\/19\/digenic-inheritance-in-medical-genetics\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-06-19T18:38:54+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:07:28+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\\\/06\\\/19\\\/digenic-inheritance-in-medical-genetics\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/19\\\/digenic-inheritance-in-medical-genetics\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Digenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer)\",\"datePublished\":\"2013-06-19T18:38:54+00:00\",\"dateModified\":\"2026-02-25T20:07:28+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/19\\\/digenic-inheritance-in-medical-genetics\\\/\"},\"wordCount\":136,\"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\\\/06\\\/19\\\/digenic-inheritance-in-medical-genetics\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/19\\\/digenic-inheritance-in-medical-genetics\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/06\\\/19\\\/digenic-inheritance-in-medical-genetics\\\/\",\"name\":\"Digenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer) - 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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":"Digenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer) - 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\/06\/19\/digenic-inheritance-in-medical-genetics\/","og_locale":"en_US","og_type":"article","og_title":"Digenic inheritance in medical genetics (Contributed by Dr. Alejandro Schaffer) - JMG Contact blog","og_description":"Digenic inheritance (DI) of a disease in a family means that the variants at two genes or loci explain which individuals are affected or unaffected more clearly than the genotypes at one locus alone.\u00a0 This article catalogs case studies of human DI, since the first such example was published in 1994. 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