{"id":178333,"date":"2023-12-14T20:24:38","date_gmt":"2023-12-15T02:24:38","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2023\/12\/unlocking-the-human-genome-innovative-machine-learning-tool-predicts-functional-consequences-of-genetic-variants"},"modified":"2023-12-14T20:24:38","modified_gmt":"2023-12-15T02:24:38","slug":"unlocking-the-human-genome-innovative-machine-learning-tool-predicts-functional-consequences-of-genetic-variants","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2023\/12\/unlocking-the-human-genome-innovative-machine-learning-tool-predicts-functional-consequences-of-genetic-variants","title":{"rendered":"Unlocking the human genome: Innovative machine learning tool predicts functional consequences of genetic variants"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/unlocking-the-human-genome-innovative-machine-learning-tool-predicts-functional-consequences-of-genetic-variants2.jpg\"><\/a><\/p>\n<p>In a novel study, researchers from the Icahn School of Medicine at Mount Sinai have introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain and loss-of-function variants across the genome.<\/p>\n<p>Unlike current methods that predominantly focus on loss of function, LoGoFunc distinguishes among different types of harmful mutations, offering potentially valuable insights into diverse disease outcomes. <a href=\"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-023-01261-9\">The findings<\/a> are described in Genome Medicine.<\/p>\n<p>Genetic variations can alter <a href=\"https:\/\/medicalxpress.com\/tags\/protein+function\/\" rel=\"tag\" class=\"\">protein function<\/a>, with some mutations boosting activity or introducing new functions (gain of function), while others diminish or eliminate function (loss of function). These changes can have significant implications for <a href=\"https:\/\/medicalxpress.com\/tags\/human+health\/\" rel=\"tag\" class=\"\">human health<\/a> and the treatment of disease.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>In a novel study, researchers from the Icahn School of Medicine at Mount Sinai have introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain and loss-of-function variants across the genome. Unlike current methods that predominantly focus on loss of function, LoGoFunc distinguishes among different types of harmful mutations, offering potentially valuable insights into diverse [\u2026]<\/p>\n","protected":false},"author":427,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412,1495,6],"tags":[],"class_list":["post-178333","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics","category-health","category-robotics-ai"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/178333","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/427"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=178333"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/178333\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=178333"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=178333"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=178333"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}