Journal article
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss
The American College of Medical Genetics and Genomics, and the Association for Molecular Pathology (ACMG/AMP) have proposed a set of evidence-based guidelines to support sequence variant interpretation. The ClinGen hearing loss expert panel (HL-EP) introduced further specifications into the ACMG/AMP framework for genetic hearing loss.
This study developed a tool named VIP-HL, aiming to semi-automate the HL ACMG/AMP rules. VIP-HL aggregates information from external databases to automate 13 out of 24 ACMG/AMP rules specified by HL-EP, namely PVS1, PS1, PM1, PM2, PM4, PM5, PP3, BA1, BS1, BS2, BP3, BP4, and BP7. We benchmarked VIP-HL using 50 variants where 82 rules were activated by the ClinGen HL-EP.
VIP-HL concordantly activated 93% (76/82) rules, significantly higher than that of by InterVar (48%; 39/82). VIP-HL is an integrated online tool for reliable automated variant classification in hearing loss genes. It assists curators in variant interpretation and provides a platform for users to share classifications with each other.
VIP-HL is available with a user-friendly web interface athttp://hearing.genetics.bgi.com".
Language: | English |
---|---|
Year: | 2021 |
Pages: | 1567-1575 |
ISSN: | 10981004 and 10597794 |
Types: | Journal article |
DOI: | 10.1002/humu.24277 |
ORCIDs: | 0000-0002-3113-113X , 0000-0001-9338-5525 , 0000-0002-9134-1673 and 0000-0003-2349-750X |