Article
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Circulation. Cardiovascular genetics - 1 Dec 2017
Lin Ying, Williams Nori, Wang Dawei, Coetzee William, Zhou Bo, Eng Lucy S, Um Sung Yon, Bao Ruijun, Devinsky Orrin, McDonald Thomas V, Sampson Barbara A, Tang Yingying
Abstract excerpt
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy...
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