Article
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Bioinformatics (Oxford, England) - 4 Mar 2024
Kim Jung, Naqvi Ammar S, Corbett Ryan J, Kaufman Rebecca S, Vaksman Zalman, Brown Miguel A, Miller Daniel P, Phul Saksham, Geng Zhuangzhuang, Storm Phillip B, Resnick Adam C, Stewart Douglas R, Rokita Jo Lynne, Diskin Sharon J
Abstract excerpt
SUMMARY: With the increasing rates of exome and whole genome sequencing, the ability to classify large sets of germline sequencing variants using up-to-date American College of Medical Genetics-Association for Molecular Pathology (ACMG-AMP) criteria is crucial. Here, we present Automated Germline Variant Pathogenicity (AutoGVP), a tool that integrates germline variant pathogenicity annotations from ClinVar and...
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