Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Katherine S JosephsAngharad M RobertsPantazis TheotokisRoddy WalshPhilip J OstrowskiMatthew EdwardsAndrew FlemingCourtney ThaxtonJason D RobertsMelanie CareWojciech ZarebaArnon AdlerAmy C SturmRafik TadrosValeria NovelliEmma OwensLucas BronickiOlga JarinovaBert CallewaertStacey PetersTom LumbersElizabeth JordanBabken AsatryanNeesha KrishnanRay E HershbergerC Anwar A ChahalAndrew P LandstromCynthia JamesElizabeth M McNallyDaniel P JudgePeter van TintelenArthur WildeMichael GollobJodie InglesJames S WarePublished in: medRxiv : the preprint server for health sciences (2023)
Access to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is pre-requisite for scalable genomic testing.