Software detects disease-causing gene mutations
2020
Berlin Institute of Health, Berlin, Germany
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. The analysed genetic variants are automatically annotated with population frequencies, molecular impact, and presence in multiple databases. VarFish can be used for a fast and accurate diagnosis of rare genetic diseases and has been proven very helpful in enabling researchers and physicians to quickly and accurately diagnose participants for clinical trials.
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe
Added on: 09-17-2020
[1] https://academic.oup.com/nar/article/48/W1/W162/5825625[2] https://www.bionity.com/en/news/1167884/new-software-detects-disease-causing-gene-mutations.html
