iNGS: a prototype tool for genome interpretation and annotation

Authors

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

DOI:

https://doi.org/10.14806/ej.19.B.723

Keywords:

linked data, next generation sequencing

Abstract

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.

Author Biographies

  • Ismael Navas-Delgado, University of Málaga
    Khaos Research. Dpto. Lenguajes y Ciencias de la Computación
  • Maria Jesús García Godoy, University of Málaga
    Khaos Research. Dpto. Lenguajes y Ciencias de la Computación
  • Fátima Arjona-Pulido, University of Málaga
    Student of Health Engineering Degree.
  • Trinidad Castillo-Castillo, University of Málaga
    Student of Health Engineering Degree.
  • Ana Isabel Ramos-Ostio, University of Málaga
    Student of Health Engineering Degree.
  • José F. Aldana-Montes, University of Málaga
    Khaos Research. Dpto. Lenguajes y Ciencias de la Computación

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Published

2013-10-14

Issue

Vol. 19: Supplement B

Section

Oral Communications

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