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Vice-Direction of Basic Research NATIONAL BIOINFORMATICS INSTITUTE UNIT Structural Biology And Biocomputing Programme | National Bioinformatics Institute Unit Victor de la Torre Russis ( until November ) Unit Head The INB Unit differs from the other Units in the Structural Biology and Biocomputing Programme in the sense that its offering is Technicians Andrés Cañada ( TS )*, José M. Fernández ( TS )*, José M. Rodríguez ( TS )* not restricted to the CNIO Groups, and that its budget is funded entirely by an external agency, the ISCIII. Titulado Superior ( Advanced Degree ) * RESEARCH HIGHLIGHTS The INB service offering is distributed amongst three horizontal Work Packages ( WP ) as well as the Training WP. These services are integrated into six major research areas : Health, Genomics, Functional Genomics, Structural Biology, Biological Networks and Data mining. Besides from its coordination role, the Unit also participates in the delivery of the services. Data resources and Bio-computing The storage and processing of data have become fundamental tasks for almost all of the current research projects. Through a collaboration model, the Unit participates in several research projects studying the data requirements and developing solutions to store and process the data. An example of this is the Blueprint data-portal ( http ://blueprint-dev. bioinfo.cnio.es/#/). BLUEPRINT is a high impact FP7 project aimed at producing a blueprint of haemopoetic epigenomes. In the current version, the data portal provides an epigenomic analysis obtained from 439 samples to the scientific community. Their associated epigenomes are characterised by : gene and transcript expression ( from RNA-Seq experiments ), hyper and hypo methylated regions ( derived from WGBS experiments ), chromatin accessibility ( DNAseSeq ), and 7 Histone marks binding activity ( ChIP-Seq ). ɗɗ Coordinate the activities of the Institute. ɗɗ Design ( with the support of all the nodes ) the INB scientific/ technical programme and to ensure its execution. ɗɗ Design ( with the support of all the nodes ) the INB training programme. ANNUAL REPORT 2015 End users applications and services The Unit actively contributes to the creation of an integrated platform that connects databases, registries, biobanks and clinical bioinformatics for research on rare diseases. Infrastructure development OVERVIEW The Spanish National Bioinformatics Institute ( Instituto Nacional de Bioinformática, INB ) is a programme of the National Infrastructure of Biomolecular and Bioinformatics Resources Platform ( Plataforma en Red de Recursos Biomoleculares y Bioinformáticos, PRB2 ). The INB itself is also the Spanish Node of the European Bioinformatics Infrastructure ELIXIR. The INB is organised as a network composed of 10 nodes distributed across 9 centres. The INB Unit at the CNIO is the Central Node of the network. As a Central Node, the main goals of the INB Unit are to : Figure Diagram of the organisation and activities of the Spanish National Bioinformatics Unit ( INB ). Within the infrastructure development, special attention is paid to the text-mining infrastructure for the processing of biomedical texts. The LiMTox system ( http ://limtox.bioinfo.cnio. es ) is the first text mining approach that extracts associations between compounds and a particular toxicological end point at various levels of granularity and evidence types, all inspired by the content of toxicology reports. “ The Unit has contributed to the creation of a text-mining infrastructure that identifies, for a large number of compounds, the associated toxicological effects based on the evidences extracted from several literature corpus.” ɗɗ Coordinate the participation of Spain in ELIXIR. ɗɗ Mediate the collaboration between the INB and third parties including : National and International research consortia, other infrastructures, SMEs and the Industry. 90 ∞∞ ∞∞ PUBLICATIONS Abascal F, Ezkurdia I, Rodriguez-Rivas J, Rodriguez JM, Del Pozo A, Vázquez J, Valencia A, Tress ML ( 2015 ). Alternatively Spliced Homologous Exons Have ∞∞ Ancient Origins and Are Highly Expressed at the Protein Level. PLoS Comput Biol 11, e1004325. Rodriguez JM, Carro A, Valencia A, Tress ML ( 2015 ). APPRIS WebServer and WebServices. Nucleic Acids Res 43, W455-W459. SPANISH NATIONAL CANCER RESEARCH CENTRE, CNIO The application allows clinicians and researchers to explore the possible causes of the disease by combining patient’s genomic data with phenotypic annotations. The Unit has also developed APPRIS ( http ://appris.bioinfo.cnio.es/#/), a service that automatically annotates genes and transcripts. The GENCODE consortium uses APPRIS to annotate the principal isoforms of several species. s ∞∞ Ezkurdia I, Rodriguez JM, Carillo-de Santa Pau E, Vázquez J, Valencia A, Tress ML ( 2015 ). Most highly expressed protein-coding genes have a single dominant isoform. J Proteome Res 14, 1880-1887. ∞∞ Lees JG et al. ( incl. Fernández JM, Krallinger M, Valencia A ) ( 2015 ). FUN-L : Gene prioritization for RNAi screens. Bioinformatics 31, 2052-2053. 91