Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S. Josephs, Angharad M. Roberts, Pantazis I. Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie E. Care, Wojciech Zaręba, Arnon Adler, Amy Curry Sturm, Rafik Tadros, Valeria Novelli, , James S. Ware
The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.
Genome Medicine · Oct 23, 2023Peer-reviewedGenetic & Genomic Medicine