Article
VarFish: comprehensive DNA variant analysis for diagnostics and research.
Nucleic acids research - 2 Jul 2020
Holtgrewe Manuel, Stolpe Oliver, Nieminen Mikko, Mundlos Stefan, Knaus Alexej, Kornak Uwe, Seelow Dominik, Segebrecht Lara, Spielmann Malte, Fischer-Zirnsak Björn, Boschann Felix, Scholl Ute, Ehmke Nadja, Beule Dieter
Abstract excerpt
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...
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