Article

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

2019-08-01

Abstract excerpt

Null variants are prevalent within 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 (PVS1) for pathogenicity in the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines. The refinement may improve interpretation consis...

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Literature Corpus work: 500d168d-e7e2-5ab2-9c7d-4328772a806e
DOI: 10.1101/720839

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