Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

Abstract excerpt

PURPOSE: Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene-disease relationships, e.g., distinct consequences of gain-of-function versus loss-of-function variants. We hypothesized that incorporating disease-specific...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathy and Myosin Studies
• Share to Genetic Associations and Epidemiology
• Share to Genomics and Rare Diseases