{"id":1297,"date":"2025-10-06T02:00:00","date_gmt":"2025-10-06T02:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=f7488001ebcaa9c4d578785711b96316"},"modified":"2025-10-06T23:00:00","modified_gmt":"2025-10-06T23:00:00","slug":"a-scalable-approach-for-genomic-first-rare-disorder-detection-in-a-healthcare-based-population","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/06\/a-scalable-approach-for-genomic-first-rare-disorder-detection-in-a-healthcare-based-population\/","title":{"rendered":"A scalable approach for genomic-first rare disorder detection in a healthcare-based population"},"content":{"rendered":"Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying pathogenic variants in 3.2% of a healthcare-based cohort (n = 218,680). Most lacked a corresponding clinical diagnosis, suggesting under-diagnosis, reduced penetrance, and the value of genomics-first detection.","protected":false},"excerpt":{"rendered":"<p>Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying pathogenic variants in 3.2% of a healthcare-based coh&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-1297","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1297","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1297"}],"version-history":[{"count":23,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1297\/revisions"}],"predecessor-version":[{"id":2426,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1297\/revisions\/2426"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1297"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1297"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1297"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}