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Clinical Interpretation and Management of Genetic Variants

1 Oct 2020

Abstract excerpt

Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances in the short-read sequencing technologies, despite some shortcomings, have enabled identification of the vast majority of the genetic variants in each genome. The major challenge is in identifying the pathogenic variants in cardiovascular diseases. The yield of the genetic testing has been...

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PMID: 33145465
DOI: 10.1016/j.jacbts.2020.05.013

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