Page 69 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Porta-Pardo e, garcía-alonso l, hraBe t, doPaZo* J, godZiK* a. (*co-corresponding). A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces. PLoS Comput. Biol. 2015;11(10):e1004518.
hernansaiZ-Ballesteros rd, salaVert F, se- Bastián-león P, alemán a, medina i, doPaZo J. Assess- ing the impact of mutations found in next generation se- quencing data over human signaling pathways. Nucleic Acids Res.. 2015;43:W270-W275.
veals ZNF408 as a New Gene Associated With Autosomal Recessive Retinitis Pigmentosa with Vitreal Alterations. Hum. Mol. Genet. 2015;24:4037-4048.
luZón-toro B, gui h, ruiZ-Ferrer m, sZe-man tang c, FernándeZ rm, sham P-c, torroglosa a, KWong-hang tam P, esPino-Paisán l, chernY ss, Bleda m, enguix-rie- go mdV, doPaZo J, antiñolo g, garcía-Barceló m-m, Borrego s. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Sci Rep.
aVila-FernándeZ a, PereZ-carro r, corton m, lóPeZ-mo- lina mi, camPello l, garanto a, FernadeZ-sáncheZ l, duiJKers l, lóPeZ-martíneZ ma, riVeiro-alVareZ r, da silVa lrJ, sáncheZ-alcudia r, martin-garrido e, reYes n, garcía-garcía F, doPaZo J, garcía-sandoVal B, collin rW, cuenca n, aYuso c. Whole Exome Sequencing Re-
Highlights
The most remarkable during 2015 has been the study on Spanish contol population and the build- ing of a database of allelic frequencies of the Span- ish population (http://www.ciberer.es/plataformas/ ciberer-spanish-variant-server). It consists on a unique resource very helpful to search for disease genes.
2015;5:16473.
amadoZ a, seBastian-leon P, Vidal e, salaVert F, do- PaZo J. Using activation status of signaling pathways as mechanism-based biomarkers to predict drug sensitivity. Sci Rep. 2015;5:18494.
In addition, we have provided consulting and bio- informatic support in 22 projects from 15 different CIBERER groups. We have actively participated in the innter-group collaboration by hosting 11 re- searchers from other CIBERER groups. Finally, we carried out the course “NGS course: from reads to candidate genes” to which 25 delegates from differ- ent CIBERER groups attended.
Institution: Institution: Fundación Centro de Investigación Príncipe Felipe
Contact: Centro de Investigación Príncipe Felipe. C/ Eduardo Primo Yúfera 3. 46013 Valencia Tel.: 96 328 96 80 · E.mail: [email protected] · Website: http://bioinfo.cipf.es/
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