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Most relevant scientific articles
• Dopazo J., Amadoz A., Bleda M., Garcia-Alonso L., Aleman A., Garcia-Garcia F. et al. 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. Molecular Biology and Evolution. 2016;33(5):1205-1218.
• Salavert F, Hidago MR, Amadoz A, Çubuk C, Medina I, Crespo D et al. Actionable pathways: interactive discovery of therapeutic targets using signaling pathway models.Nucleic acids research. 2016;44(W1): W212-6.
• Falco M.M., Bleda M., Carbonell-Caballero J., Dopazo J. The pan-cancer pathological regulatory landscape. Scientific Reports. 2016;6.
• Corton M., Avila-Fernandez A., Campello L., Sanchez M., Benavides B., Lopez-Molina M.I. et al. Identification of the photoreceptor transcriptional Co-Repressor SAMD11 as novel cause of autosomal recessive retinitis pigmentosa. Scientific Reports. 2016;6.
• Salavert F., Garcia-Alonso L., Sanchez R., Alonso R., Bleda M., Medina I. et al. Web-based network analysis and visualization using CellMaps. Bioinformatics. 2016;32(19):3041-3043.
Hightlights
During 2016 an ACCI collaborative Project was carried out to develop a pilot system for the storage and management of genomic data (exomes or large panels). The project was successfully completed and allowed to experience what were the problems produced by the management of this type of data as well as to test solutions for them. Seven hospitals from four autonomous communities across Spain were participating in this project: La Paz, Fundación Jiménez Díaz, Ramón y Cajal, CBM (Madrid), Virgen del Roció (Sevilla), Hospital del Mar (Barcelona), HU La Fe (Valencia). We can consider this project as the largest attempt to manage genomic data in the country.
On the other hand, the BiER proposal for the analysis of genomic data from the NaGen project to sequence 1000 genomes of rare disease patients in the Navarra community was selected successful and the BiER will participate in the project.
In addition, the official version of the server of genetic variation of the Spanish population
(CSVS: http://www.ciberer.es/bier/csvs) with data of allele frequencies of variants obtained from 790 exomes, is now running. If brief, an update with 200 more exomes will raise to about 1000 the number of individuals used to construct the database. This is one of the most comprehensive databases of local genetic variation available.
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