About the resource
Type of resource: Variant prediction system
License/availability: Open source
Website: Click here to view website
DNA sequencing of complete/partial exome and genome, through next-generation sequencing technologies (NGS) is an invaluable tool for identification of disease-causing mutations responsible for Mendelian disorders. However the success rate for these analyses remains low due to technical limitations as well as the lack of information for non-coding variations and the absence of all-in-one user-friendly system for data analysis. To this end, Aix-Marseille University Medical School has developed VarAFT (Variant Analysis and Filtration Tool) – a bioinformatics system that permits end-users to annotate, analyze and highlight causative mutations based on a large panel of filtration options. This system is adapted to all transmission modes and allows the analysis of multiple samples.
A prototype version of VarAFT was presented during the last RD-Connect Jamboree in Marseille and since then, the system has been instrumental to the creation of the RD-Connect platform NGS filtration user interface.
VarAFT is now publicly available and is the only such system to integrate UMD-Predictor data. It can be used to deal with exome data in a user-friendly manner without bioinformatics knowledge.