Variant Annotation and Filter Tool
VarAFT paper is out in Nuleic Acids Research for the next web servie issue. Tha advance article is available here
The identification of disease-causing mutations in human genetics remains challenging despite the NGS revolution as up to 70% of cases are still unsolved. To tackle this challenge, we developed the VarAFT software to improve annotation and filtration steps.
VarAFT provides experiments’ quality, annotates, and allows the filtration of VCF files. Data from multiple samples may be combined to address different Mendelian Inherited Disorders, Population Genetics or Cancers. It contains unique features including data from OMIM, HPO, Gene Ontology, pathways and predictions from UMD-Predictor and Human Splicing Finder in addition to classical annotations from dbNSFP that can be combined to optimally select candidate pathogenic mutations.
VarAFT is a standalone and multiplatform (Windows, Mac, Unix) system which is easy to install and easy to use. It does not require skills in informatics or a powerful computer.
VarAFT is developed by the Genetics and Bioinformatics team at INSERM UMR 1251 in the Medical School of la Timone Aix-Marseille University in Marseille, France. (More information on https://geneticsnadbioinformatics.eu) The VarAFT system is freely available to non-commercial users.
If you are using VarAFT in your projects, please cite: JP Desvignes & al Nucleic Acids Research, gky471, https://doi.org/10.1093/nar/gky471