AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
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DOI: 10.1002/humu.24051
Abstract: Null variants are prevalent within the human genome, and their accurate interpretation is critical for clinical management. In 2018, the ClinGen Sequence Variant Interpretation (SVI) Working Group refined the only criterion with a very strong… read more here.
Keywords: automatic classification; interpretation; pvs1; null variants ... See more keywords