VarFish: comprehensive DNA variant analysis for diagnostics and research.

ABSTRACT: VarFish is a user-friendly web application for the quality control, filtering, prioritization, analysis, and user-based annotation of DNA variant data with a focus on rare disease genetics. It is capable of processing variant call files with single or multiple samples. The variants are automatically annotated with population frequencies, molecular impact, and presence in databases such as ClinVar. Further, it provides support for pathogenicity scores including CADD, MutationTaster, and phenotypic similarity scores. Users can filter variants based on these annotations and presumed inheritance pattern and sort the results by these scores. Variants passing the filter are listed with their annotations and many useful link-outs to genome browsers, other gene/variant data portals, and external t

SUBMITTER: Holtgrewe M 

PROVIDER: S-EPMC7319464 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature