Abstract:Introduction.
The interpretation of variants of uncertain significance (VUS) remains a challenge in the care of patients with established or familial cardiovascular diseases. 56% of potential variants within known cardiovascular risk genes are characterized as VUS and unbiased machine learning algorithms trained upon large data resources can stratify VUS into higher vs. lower probability of contributing to a cardiovascular disease phenotype.
Methods.
ClinVar pathogenic or likely pathogenic (P/LP) and benign … Show more
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