iNGS: a prototype tool for genome interpretation and annotation

Ismael Navas-Delgado, Maria Jesús García Godoy, Fátima Arjona-Pulido, Trinidad Castillo-Castillo, Ana Isabel Ramos-Ostio, José F. Aldana-Montes


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.


linked data; next generation sequencing

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