{"id":2511,"date":"2025-05-29T11:33:10","date_gmt":"2025-05-29T11:33:10","guid":{"rendered":"https:\/\/dta.cnr.it\/2025\/05\/29\/insights-into-complex-trait-etiology-through-rare-variant-aggregate-association-testing-implementing-sequence-and-imputed-data\/"},"modified":"2025-05-29T11:33:10","modified_gmt":"2025-05-29T11:33:10","slug":"insights-into-complex-trait-etiology-through-rare-variant-aggregate-association-testing-implementing-sequence-and-imputed-data","status":"publish","type":"post","link":"https:\/\/dta.cnr.it\/en\/2025\/05\/29\/insights-into-complex-trait-etiology-through-rare-variant-aggregate-association-testing-implementing-sequence-and-imputed-data\/","title":{"rendered":"Insights into complex trait etiology through rare variant aggregate association testing: implementing sequence and imputed data"},"content":{"rendered":"<p><em>Il 29\/05\/2025 ore 14.30 &#8211; 16.30<\/em>.<\/p>\n<p>Semina hel by prof. Suzanne M. Leal PHD, Columbia University- Dept of Neurology.<br \/>\nAbstract<br \/>\nRare-variant (RV) aggregate association analysis (AAA) can increase the power to detect associations compared to analyzing individual variants. The utility and caveats of performing RVAAA is demonstrated through a study of age-related (AR) hearing loss (HL) which analyzed UK Biobank exome sequence data and self-reported HL phenotypes. The study brings new insights into the etiology of ARHL, demonstrating many Mendelian genes, i.e., 32, which have been implicated in early onset HL also play a role in the &#8230;<\/p>\n<p><a href=\"https:\/\/www.cnr.it\/it\/evento\/19892\/insights-into-complex-trait-etiology-through-rare-variant-aggregate-association-testing-implementing-sequence-and-imputed-data\" target=\"_blank\" class=\"feedzy-rss-link-icon\">Read More<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Il 29\/05\/2025 ore 14.30 &#8211; 16.30. Semina hel by prof. Suzanne M. Leal PHD, Columbia University- Dept of Neurology. Abstract Rare-variant (RV) aggregate association analysis (AAA) can increase the power to detect associations compared to analyzing individual variants. The utility and caveats of performing RVAAA is demonstrated through a study of age-related (AR) hearing loss [&hellip;]<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[24],"tags":[],"class_list":["post-2511","post","type-post","status-publish","format-standard","hentry","category-eventi"],"_links":{"self":[{"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/posts\/2511","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/comments?post=2511"}],"version-history":[{"count":0,"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/posts\/2511\/revisions"}],"wp:attachment":[{"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/media?parent=2511"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/categories?post=2511"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dta.cnr.it\/en\/wp-json\/wp\/v2\/tags?post=2511"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}