VarHunter: a platform to process and analyze data from patients with neurological diseases

Introduction: Next Generation Sequencing (NGS) is a rapid, high-throughput, and cost-effective approach and has been widely used to identify pathogenic variation especially in Mendelian disorders. It generates a huge amount the data that needs to by analyzed quickly and effectively. VarHunter is a web platform that allows users to search easily and faster new gene-disease association. By using its responsive and user friendly interface, this platform is able to help researcher to analyze the data in a clear and easy way Aim: The purpose of the study is the development of a database containing all the results derived from NGS analysis. Using Node.js, we developed VarHunter, a web-platform that parses an analyzed and annotated .CSV file with all the variants found in the sequencing experiments and populates the database hosted on a MySQL server. The goal of VarHunter is to help researchers to easily manage the results in order to have a clear view of the big amount of data generated by NGS experiments. Materials and Methods: The database is hosted on a MySQL 5.7 server and the platform is implemented in Node.js, in particular Node.js is used with the framework Express.js. Results: We compared the results obtained from ten subject affected by a neurological disease. This platform, thanks to its efficiency and reliability, allows the user to have the results well organized and almost instantaneously. Before the advent of VarHunter, the scientist usually employed different tools, such as Excel filtering, that are not specifically built for this kind of analysis. VarHunter is able to reduce the time and the effort respect to the previous analysis, also integrating various data coming from the most important genetic and biological databases. Conclusions: VarHunter is a new platform to process and analyze data from patients with neurological diseases in order to find new variations associated to the pathological phenotype. It simplifies the work of researchers helping them to manage their data through the definition of projects and simplifying the way for searching the genetic variation underlying the disease, providing specifically built tools to help their work.