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 Ware

Published in: Genome medicine (2023)

Access to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is a pre-requisite for scalable genomic testing.

Keyphrases

copy number
heart failure
big data
machine learning
mitochondrial dna
deep learning
data analysis