Structural Biology Programme

Bioinformatics Unit

Head of Unit:  Fátima Al-Shahrour
Research highlights

In 2017, the CNIO Bioinformatics Unit published 24 peerreviewed articles (the full list is available on our web site http://bioinformatics.cnio.es/) as a result of our ongoing research projects and scientific collaborations with CNIO Research Groups and other national and international research institutions.

During this year, we developed several bioinformatics tools for the analysis of next-generation sequencing data in collaboration with the SING group (University of Vigo): RubioSeq+ for DNASeq analysis (Rubio-Camarillo et al. 2017), nextpresso for RNA-Seq analysis (Graña et al. 2017), and bicycle for bisulfiteseq analysis (Graña et al. 2017). Remarkably, the RUbioSeq+ (http://rubioseq.bioinfo.cnio.es/) tool supports an interactive graphical user interface (GUI) that facilitates its usage for biomedical translational researchers who lack computational or bioinformatics skills.

Also, our Group focuses on gaining a better understanding of the impact of cancer genomics on the making of clinical decisions. To this aim, we have developed two methodologies to guide the selection of therapies, propose sequential treatments and drug repositioning: PanDrugs (http://pandrugs.bioinfo.cnio.es) and SATIE (http://satie.bioinfo.cnio.es).

All our tools are freely available and have been applied in different genomic studies undertaken in numerous scientific collaborations, such as: the study of the pre-metastatic activity of midkine in cancer (Olmeda D et al., 2017), the identification of a novel oncogenic Braf kinase-inactive mutation (Nieto, P et al., 2017), and also the prediction of drug response in pancreatic cancer patient-derived xenograft mouse models using transcriptomics data (Rajeshkuma NV et al., 2017).

Many more bioinformatics analyses were performed together with other CNIO groups, such as: the development of a targeted sequencing assay for Pheochromocytoma and Paraganglioma diagnostics (Currás-Freixes et al., 2017) and the study of NUP98HOXA9 fusion in leukaemia (Rio-Machin A et al., 2017), among others.