Next-generation sequencing technologies have become the most powerful tool to discover genetic variants associated with human diseases. Although the dramatic reductions in the costs facilitate the use in the wet-lab and clinics, the huge amount of data generated renders their management by non-expert researchers and physicians extremely difficult.
Therefore, there is an urgent need of novel approaches and tools aimed at getting the ‘end-users’ closer to the sequencing data, facilitating the access by non-bioinformaticians, and to speed-up the functional interpretation of genetic variants.
myVCF is a user-friendly platform that helps end-users, without programming skills, to analyze and visualize mutations in an easy and flexible manner. Helping decision making for further downstream analysis.
myVCF will manage VCF (Variant Call Format) files (the standard format for storing NGS mutations data) deriving from different NGS applications (Whole Exome/Genome sequencing, Public database…)
myVCF will help end-users to browse and analyze VCF coming from exome and targeted sequencing projects. myVCF can handle multiple-sample VCF and multiple projects can be created as separate environment in order to manage different VCFs with the same application.
Alessandro Pietrelli, Luca Valenti; myVCF: a desktop application for high-throughput mutations data management. Bioinformatics 2017 btx475. doi: 10.1093/bioinformatics/btx475