{"id":527,"date":"2025-10-28T17:30:14","date_gmt":"2025-10-28T17:30:14","guid":{"rendered":"https:\/\/mrivas.su.domains\/gbe\/?p=527"},"modified":"2025-11-09T23:39:53","modified_gmt":"2025-11-09T23:39:53","slug":"ai-agent-for-interpreting-rare-variants-from-genome-sequencing","status":"publish","type":"post","link":"https:\/\/mrivas.su.domains\/gbe\/uncategorized\/ai-agent-for-interpreting-rare-variants-from-genome-sequencing\/","title":{"rendered":"AI agent for interpreting rare variants from genome sequencing"},"content":{"rendered":"\n<p>Interpreting rare private mutations is one of the next challenges in human genetics. Some ideas for interpreting them include downstream studies with functional assays, e.g. see Robert Plenge&#8217;s keynote lecture at the Variant to Function symposium dissecting the functional consequences of TYK2 ultra rare variants.<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe loading=\"lazy\" title=\"Variant to Function (V2F) Symposium: Keynote, Robert Plenge\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/vezftsmJoVc?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n\n\n<p>We built an AI agent that integrates literature to interpret the consequences of newly identified variants from whole-genome sequencing data.<\/p>\n\n\n\n<figure class=\"wp-block-video\"><video controls src=\"https:\/\/www.dropbox.com\/scl\/fi\/dzc55t7ocn79l5bjyeemi\/lofagent.mov?rlkey=jx86ooqec4efcvu47kt8nsrd2&amp;raw=1\"><\/video><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>Interpreting rare private mutations is one of the next challenges in human genetics. Some ideas for interpreting them include downstream studies with functional assays, e.g. see Robert Plenge&#8217;s keynote lecture at the Variant to Function symposium dissecting the functional consequences of TYK2 ultra rare variants. We built an AI agent that integrates literature to interpret [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-527","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/posts\/527","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/comments?post=527"}],"version-history":[{"count":2,"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/posts\/527\/revisions"}],"predecessor-version":[{"id":643,"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/posts\/527\/revisions\/643"}],"wp:attachment":[{"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/media?parent=527"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/categories?post=527"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/mrivas.su.domains\/gbe\/wp-json\/wp\/v2\/tags?post=527"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}