Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Abstract excerpt

BACKGROUND: Human exome sequencing is a recently developed tool to aid in the discovery of novel coding variants. Now broadly applied, exome sequencing data sets provide a novel opportunity to evaluate the allele frequencies of previously published pathogenic rare variants. METHODS AND RESULTS: We examined the exome data set from the National Heart, Lung and Blood Institute Exome Sequencing Project and compared...

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