CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
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DOI: 10.1002/humu.23665
Abstract: Variant interpretation for the diagnosis of genetic diseases is a complex process. The American College of Medical Genetics and Genomics, with the Association for Molecular Pathology, have proposed a set of evidence‐based guidelines to support… read more here.
Keywords: interpretation; diagnosis; implementation; cardiovai ... See more keywords