AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Bioinformatics
; 40(3)2024 Mar 04.
Article
in En
| MEDLINE
| ID: mdl-38426335
ABSTRACT
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. AVAILABILITY AND IMPLEMENTATION AutoGVP is an open source dockerized workflow implemented in R and freely available on GitHub at https//github.com/diskin-lab-chop/AutoGVP.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Genomics
Limits:
Humans
Language:
En
Journal:
Bioinformatics
Journal subject:
INFORMATICA MEDICA
Year:
2024
Document type:
Article
Affiliation country: