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Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.

Circulation. Genomic and precision medicine - 1 Apr 2023

Landstrom Andrew P, Chahal Anwar A, Ackerman Michael J, Cresci Sharon, Milewicz Dianna M, Morris Alanna A, Sarquella-Brugada Georgia, Semsarian Christopher, Shah Svati H, Sturm Amy C

Abstract excerpt

Rapid advances in genetic technologies have led to expanding use of diagnostic, research, and direct-to-consumer exome and genome sequencing. Incidentally identified variants from this sequencing represent a significant and growing challenge to interpret and translate into clinical care and include variants in genes associated with heritable cardiovascular disease such as cardiac ion channelopathies,...

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PMID: 36970980
DOI: 10.1161/HCG.0000000000000092

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