{"id":5486,"date":"2025-12-22T23:00:00","date_gmt":"2025-12-22T23:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=98c89a908415574697019a7249c76841"},"modified":"2025-12-22T23:00:00","modified_gmt":"2025-12-22T23:00:00","slug":"low-population-penetrance-of-variants-associated-with-inherited-retinal-degenerations","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/22\/low-population-penetrance-of-variants-associated-with-inherited-retinal-degenerations\/","title":{"rendered":"Low population penetrance of variants associated with inherited retinal degenerations"},"content":{"rendered":"We used two large biobanks with linked genomic and clinical data to quantify the population-level penetrance of variants thought to cause inherited retinal degenerations (IRDs) in a Mendelian fashion. The population-level penetrance of IRD-associated genotypes was between 9% and 28%, which is markedly lower than prior assumptions of nearly 100%.","protected":false},"excerpt":{"rendered":"<p>We used two large biobanks with linked genomic and clinical data to quantify the population-level penetrance of variants thought to cause inherited retinal degenerations (IRDs) in a Mendelian fashion. The population-level penetrance of IRD-associated g&#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-5486","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\/5486","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=5486"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5486\/revisions"}],"predecessor-version":[{"id":5487,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5486\/revisions\/5487"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=5486"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=5486"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=5486"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}