{"id":11365,"date":"2026-03-05T17:00:00","date_gmt":"2026-03-05T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=08d4b7ecf8c8a9ced2a17fcb3b99d222"},"modified":"2026-03-05T23:00:00","modified_gmt":"2026-03-05T23:00:00","slug":"identification-of-de-novo-variants-from-parent-proband-duos-via-long-read-sequencing","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/identification-of-de-novo-variants-from-parent-proband-duos-via-long-read-sequencing\/","title":{"rendered":"Identification of de novo variants from parent-proband duos via long-read sequencing"},"content":{"rendered":"Determining de novo status is often what upgrades a variant from VUS to pathogenic, but it has not been possible without sequencing both biological parents. We developed, extensively evaluated, and applied a method that leverages long-read sequencing to detect de novo variants using only one biological parent.","protected":false},"excerpt":{"rendered":"<p>Determining de novo status is often what upgrades a variant from VUS to pathogenic, but it has not been possible without sequencing both biological parents. We developed, extensively evaluated, and applied a method that leverages long-read sequencing t&#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-11365","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\/11365","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=11365"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11365\/revisions"}],"predecessor-version":[{"id":11463,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11365\/revisions\/11463"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=11365"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=11365"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=11365"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}