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dc.contributor.authorNavas-Delgado, Ismael 
dc.contributor.authorGarcía Godoy, María Jesús
dc.contributor.authorArjona-Pulido, Fátima
dc.contributor.authorCastillo-Castillo, Trinidad
dc.contributor.authorRamos-Ostio, Ana Isabel
dc.contributor.authorIfantes Díaz, Sarai
dc.contributor.authorMedina García, Ana
dc.contributor.authorAldana-Montes, Jose Francisco 
dc.date.accessioned2013-10-25T07:17:19Z
dc.date.available2013-10-25T07:17:19Z
dc.date.issued2013
dc.identifier.urihttp://hdl.handle.net/10630/6159
dc.description.abstractCurrently, 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.es_ES
dc.description.sponsorshipUniversidad 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).es_ES
dc.language.isoenges_ES
dc.publisherEMBnet.journales_ES
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBioinformáticaes_ES
dc.subject.otherNGSes_ES
dc.subject.otherBioinformaticses_ES
dc.titleiNGS: a prototype tool for genome interpretation and annotationes_ES
dc.typeinfo:eu-repo/semantics/conferenceObjectes_ES
dc.centroE.T.S.I. Informáticaes_ES
dc.relation.eventtitleNETTAB 2013es_ES
dc.relation.eventplaceVenecia, Italiaes_ES
dc.relation.eventdate16-10-2013es_ES


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