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 sequence variant
classifications from a modified version of InterVar (PVS1 strength
adjustments, removal of PP5/BP6). This tool facilitates large-scale,
clinically focused classification of germline sequence variants in a
research setting.
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