Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

ABSTRACT: Hypertrophic cardiomyopathy (HCM) is a common heart disease associated with sudden cardiac death. Early diagnosis is critical to identify patients who may benefit from implantable cardioverter defibrillator therapy. Although genetic testing is an integral part of the clinical evaluation and management of patients with HCM and their families, in many cases the genetic analysis fails to identify a disease-causing mutation. This is in part due to difficulties in classifying newly detected rare genetic variants as well as variants-of-unknown-significance (VUS). Multiple computational algorithms have been developed to predict the potential pathogenicity of genetic variants, but their relative performance in HCM has not been comprehensively assessed. Here, we compared the performance of 39 curre

SUBMITTER: Barbosa P 

PROVIDER: S-EPMC9433717 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature