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Most relevant • sebastián-león P, carbonell J, salaVert F, sanchez r, Medina i, doPazo J. 2013. Inferring
the functional effect of gene expression changes in signaling pathways. Nucleic Acids
scientific
Res. 41:W213-7.
articles
• Fernández rM, bleda M, luzón-toro b, García-alonso l, arnold s, sribudiani y, besMond
c, l F, d b, c i, l s, h rM, c a, a G,
antierioaneccheriniyonnetoFstrahakraVartintiñolo
doPazo* J, borreGo* s. 2013. Pathways systematically associated to Hirschsprung’s
disease. Orphanet J Rare Dis. 8(1):187.

• M i, s F, s r, M a, a r, e P, b M, d J. 2013
edinaalaVertanchezde arialonsoscobarledaoPazo
Genome Maps, a new generation genome browser. Nucleic Acids Res. 41:W41-6.

• de castro-Miró M, PoMares e, lorés-Motta l, tonda r, doPazo J, MarFany G, Gonzàlez-

duarte r. 2014. Combined genetic and high-throughput strategies for molecular
diagnosis of inherited retinal dystrophies. PLoS ONE.;9(2):e88410.

• doPazo J. 2013 Genomics and transcriptomics in drug discovery. Drug Discov To-

day.19(2):.126-132.

The main objective of the group is the analysis of genomic data, especially in the
Highlights
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context of rare diseases, from a computational and Systems biology perspective.

These aims confer a horizontal character to the group, with a clear translational
objective.

The most relevant results of the group include several computational tools, among

which the genomic viewer, Genomemaps (Medina et al., 2013, NAR) deserves to
be cited. This tool enables the representation of different genomic features in the

context of the genome using an intelligent technology based on Google Maps,

which can cope with huge data transfers interactively. A proof of its efficiency is
the fact that the International Cancer Genome Consortium (ICGC) has chosen

Genome Maps as the official genome viewer of the consortium (see the ICGC data

portal: http://dcc.icgc.org/), where is used by thousands of researchers around
the world

Using all the developments for genomic data analysis we have participated in

the analysis of numerous whole exome sequencing (WES) experiments of a large
number of cases, some of which started to be published during 2013. For ex-

ample, our analyses discovered new mutations with clear diagnostic potential in

metabolic diseases (Tort et al., 2013, Mol Genet Metab), degenerative retinal dys-
trophies (Mndez-Vidal et al., 2013 Mol Vis) or gut neurocristopathies (Fernandez

et al., 2013 Orphanet J Rare Dis.)

The most strategic aspect of our work is the interpretation of genomic data. Re-

cently, we have focused on the study of the impact of gene deregulations or mu-
tations in signaling pathways and the corresponding functional consequences. We á

have developed a web tool that allows transforming genomic data into phenotypic 13
consequences, revealing in this way details on the molecular mechanisms of the 20
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disease that otherwise would remain undiscovered (Sebastin-Len et al., NAR).
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