Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.0901
Abstract: Importance Pathogenic variants associated with inherited cardiomyopathy are recognized as important and clinically actionable when identified, leading some clinicians to recommend population-wide genomic screening. Objective To determine the prevalence and clinical importance of pathogenic variants… read more here.
Keywords: associated inherited; inherited cardiomyopathy; cause mortality; mortality ... See more keywords
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02370-4
Abstract: A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed… read more here.
Keywords: clinical impact; associated inherited; rare variants; inherited channelopathies ... See more keywords