Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease.

Abstract excerpt

The rich tradition of cardiovascular genomics has placed the field in prime position to extend our knowledge toward a genome-first approach to diagnosis and therapy. Population-scale genomic data has enabled exponential improvements in our ability to adjudicate variant pathogenicity based on allele rarity, and there has been a significant effort to employ these sizeable data in the investigation of rare disease....

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