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VarFish: comprehensive DNA variant analysis for diagnostics and research

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Item Type:Article
Title:VarFish: comprehensive DNA variant analysis for diagnostics and research
Creators Name:Holtgrewe, M. and Stolpe, O. and Nieminen, M. and Mundlos, S. and Knaus, A. and Kornak, U. and Seelow, D. and Segebrecht, L. and Spielmann, M. and Fischer-Zirnsak, B. and Boschann, F. and Scholl, U. and Ehmke, N. and Beule, D.
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 tools for variant assessment. VarFish allows users to create their own annotations including support for variant assessment following ACMG-AMP guidelines. In close collaboration with medical practitioners, VarFish was designed for variant analysis and prioritization in diagnostic and research settings as described in the software's extensive manual. The user interface has been optimized for supporting these protocols. Users can install VarFish on their own in-house servers where it provides additional lab notebook features for collaborative analysis and allows re-analysis of cases, e.g. after update of genotype or phenotype databases.
Source:Nucleic Acids Research
ISSN:0305-1048
Publisher:Oxford University Press
Page Range:gkaa241
Date:27 April 2020
Official Publication:https://doi.org/10.1093/nar/gkaa241
PubMed:View item in PubMed

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