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oai:riuma.uma.es:10630/61592026-02-03T12:18:45Zcom_10630_2254col_10630_37959

00925njm 22002777a 4500 dc Navas-Delgado, Ismael author García Godoy, María Jesús author Arjona-Pulido, Fátima author Castillo-Castillo, Trinidad author Ramos-Ostio, Ana Isabel author Infantes-Díaz, Sarai author Medina García, Ana author Aldana-Montes, José Francisco author 2013 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. http://hdl.handle.net/10630/6159 Bioinformática iNGS: a prototype tool for genome interpretation and annotation