Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L StentonMelanie O'LearyGabrielle T LemireGrace E VanNoyStephanie DiTroiaVijay S GaneshEmily GroopmanEmily O'HeirBrian MangilogIkeoluwa Osei-OwusuLynn S PaisJillian G SerranoMoriel H Singer-BerkBen WeisburdMichael WilsonChristina Austin-TseMarwa AbdelhakimAzza Thamer AlthagafiGiulia BabbiRiccardo BellazziSamuele BovoMaria Giulia CartaRita CasadioPieter-Jan CoenenFederica De PaoliMatteo FlorisManavalan GajapathyHoehndorf RobertJulius O B JacobsenThomas JosephAkash KamandulaPanagiostis KatsonisCyrielle KintOlivier LichtargeIvan LimongelliYulan LuPaolo MagniTarun Karthik Kumar MamidiPier Luigi MartelliMarta MulargiaGiovanna NicoraKeith NykampVikas PejaverYisu PengThi Hong Cam PhamMaurizio S PoddaAditya RaoEttore RizzoVangala G SaipradeepCastrense SavojardoPeter ScholsYang ShenNaveen SivadasanDamian SmedleyDorian SoruRajgopal SrinivasanYuanfei SunUma SunderamWuwei TanNaina TiwariXiao WangYaqiong WangAmanda WilliamsElizabeth A WortheyRujie YinYuning YouDaniel ZeibergSusanna ZuccaConstantina BakolitsaSteven E BrennerStephanie Malia FullertonPredrag RadivojacMichael J BamshadAnne H O'Donnell-LuriaPublished in: medRxiv : the preprint server for health sciences (2023)
By objective assessment of variant predictions, we provide insights into current state-of-the-art algorithms and platforms for genome sequencing analysis for rare disease diagnosis and explore areas for future optimization. Identification of diagnostic variants in unsolved families promotes synergy between researchers with clinical and computational expertise as a means of advancing the field of clinical genome interpretation.