iNGS: a prototype tool for genome interpretation and annotation

Currently, clinical interpretation of whole-genome NGS genetic findings are very low-throughput because of a lack of computational tools/software. The current bottleneck of whole-genome and whole-exome sequencing projects is in structured data management and sophisticated computational analysis of experimental data. In this work, we have started designing a platform for integrating, in a first step, existing analysis tools and adding annotations from public databases to the findings of these tools. This platform can be used to produce tools for different kind of users. As a first experiment with this platform, we have developed a Web tools for running multiple analysis tasks, completing the findings with public data and producing a simple report similar to blood test reports.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. The Project Grant (TIN2011-25840) (Spanish Ministry of Education and Science) and P11-TIC-7529 (Innovation, Science and Enterprise Ministry of the regional government of the Junta de Andalucía)