myVCF

Next-generation sequencing technologies have revolutionized the field of genetics and have become the most powerful tool to discover genetic variants associated with human diseases. These technologies have enabled the generation of vast amounts of data, facilitating their use in the wet lab and clinics. However, this huge amount of data generated renders their management by non-expert researchers and physicians extremely difficult. Therefore, there is an urgent need for novel approaches and tools to get the 'end-users' closer to the sequencing data, facilitate the access by non-bioinformaticians, and speed up the functional interpretation of genetic variants.

To address this need, the myVCF platform was developed. myVCF is a standalone, easy-to-use desktop application that is suitable for Windows, Mac, and UNIX systems. The platform is based on a browser interface and is able to manage multiple sequencing projects created from VCF files within the system. This allows users to keep track of multiple sequencing projects and easily manage them all in one place.

One of the key features of myVCF is its ability to store genetic variants and sample genotypes from an annotated VCF file in an SQLite database. This allows users to easily store, access, and manage all their genetic variant data in one place, making it easier for users to access and analyze their data. Additionally, myVCF implements a flexible data exploration search engine, allowing users to query for the chromosomal region, gene, single variant, or dbSNP ID. This gives users a range of options to explore their data and find the relevant information they need.

Another key feature of myVCF is its ability to generate a summary statistics report about mutation distribution across samples and across the genome/exome by aggregating the information within the VCF file. This provides users with a comprehensive overview of their data, allowing them to quickly identify patterns and trends within their data. Overall, myVCF allows end-users without strong programming and bioinformatics skills to explore, query, visualize, and export mutation data in a simple and straightforward way.