MMG-GBIT

VarAFT (Variant Analysis and Filtration Tool) is a standalone and multiplatform tool for annotation and prioritization of potential disease causing genes. With this tool users can annotate variant (VCF) files, combine multiple samples from various individuals, prioritize list of variants by multi-filtering parameters. Additionally, users can perform a coverage analysis and quality check from any BAM file.

• Biologie
• Biomédical
• Biotechnologie

Our team has been involved for years in different topics. The analysis of the many variations identified during the sequencing process of genes. In order to identify causative mutations, especially if they are missense mutations or null substitutions that only impact mRNA, we developed two tools: UMD-Predictor® to predict the pathogenicity of missense mutations, and the Human Splicing Finder® (HSF) to identify splicing signals and evaluate the impact of mutations on splicing.
Locus Specific Databases (LSDBs). Since 1994, our team developed the Universal Mutation Database system (UMD®) an international reference system for the creation of Locus Specific Databases (LSDBs).
Patient registries. We also developed through years, patient registries for neuromuscular rare diseases and others.

• NGS Data Analysis