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Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated Genes

15 Dec 2023

Abstract excerpt

Thousands of genetic variants have been identified in cardiomyopathy-associated genes. Diagnostic genetic testing is key for evaluation of individuals with suspected cardiomyopathy. While accurate variant pathogenicity assignment is important for diagnosis, the frequency of and factors associated with clinically relevant assessment changes are unclear. The authors aimed to characterize pathogenicity assignment...

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PMID: 38464909
DOI: 10.1016/j.jacadv.2023.100767

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