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

Jiale Xiang1, Jiguang Peng1, Samantha Baxter2

  • 1BGI Genomics, BGI-Shenzhen, Shenzhen, China.

Human Mutation
|May 23, 2020
PubMed
Summary

AutoPVS1 is a new tool that automates the interpretation of null variants in the human genome. It helps biocurators accurately classify pathogenicity, improving genetic variant interpretation for clinical management.

Keywords:
ClinGenPVS1null variantsvariant interpretation

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