GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes.
Rachel L DraelosJordan E EzekianFarica ZhuangMary E Moya-MendezZhushan ZhangMichael B RosamiliaPerathu K R ManivannanRicardo HenaoAndrew P LandstromPublished in: Circulation. Arrhythmia and electrophysiology (2022)
Gene-specific machine learning models may have a role in post-genetic testing diagnostic analyses by providing high performance prediction of variant pathogenicity.