RT Conference Proceedings
T1 iNGS: a prototype tool for genome interpretation and annotation
A1 Navas-Delgado, Ismael
A1 García Godoy, María Jesús
A1 Arjona-Pulido, Fátima
A1 Castillo-Castillo, Trinidad
A1 Ramos-Ostio, Ana Isabel
A1 Infantes-Díaz, Sarai
A1 Medina García, Ana
A1 Aldana-Montes, José Francisco
K1 Bioinformática
AB 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.
PB EMBnet.journal
YR 2013
FD 2013
LK http://hdl.handle.net/10630/6159
UL http://hdl.handle.net/10630/6159
LA eng
NO 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).
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 21 ene 2026