Publication: VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss
| dc.contributor.author | Tayoun, Ahmad Abou | |
| dc.date.accessioned | 2022-07-19T05:01:01Z | |
| dc.date.available | 2022-07-19T05:01:01Z | |
| dc.date.issued | 2021 | |
| dc.description.abstract | Abstract: 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 Variant Interpretation Platform for genetic Hearing Loss (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 in which 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 at http://hearing.genetics.bgi.com/. | en_US |
| dc.identifier.other | 204-2021.191 | |
| dc.identifier.uri | https://repository.mbru.ac.ae/handle/1/952 | |
| dc.language.iso | en | en_US |
| dc.subject | Bioinformatics | en_US |
| dc.subject | Clinical genomics | en_US |
| dc.subject | Genetic hearing loss | en_US |
| dc.subject | Variant interpretation | en_US |
| dc.title | VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | en_US |