iNGS

Personalized medicine can be considered as a medical approach which proposes the customization of healthcare involving medical decisions, treatments etc. that are applied to a patient individually and tailored to that patient. This medical methodology is possible due to the rapid advances in technology in areas such as genomics, transcriptomics, proteomics, metabolomics, etc. In this context, it is important to mention that the development of sequencing approaches of personal human genomes and the detection of DNA variations by means of a reference human genome that was unveiled in 2003-2004 (Human Genome Sequencing Consortium International, 2004) are both huge contributions that should be integrated into the personal "omics" (in this case, genomics) of each patient. Nonetheless, clinical interpretation of whole-genome and NGS (Next Generation Sequencing) genetic findings are currently very low-throughput because of a lack of computational tools/software to integrate all this information. In this sense, the reason for the current bottleneck of whole-genome and whole-exome sequencing projects is the management of structured data and sophisticated computational analysis of the experimental data obtained. Therefore, we have started designing a platform for integrating, firstly, existing genome analysis tools and then adding more annotations than those currently provided from the findings of these tools in public databases. As a first experiment with this platform (http://khaos.uma.es/iNGS), we have developed a Web tool for running multiple analysis tasks. All findings of these analysis tools are completed with public data to generate a simple report to complete information provided by genome interpretation and annotation tool results.