My scientific interests revolve around functional genomics, systems biology and the development of algorithms and software for the analysis of high-throughput data (mainly, but not restricted to, Next Generation Sequencing) and its application to the relationship between genotype and phenotype, mainly oriented to personalized and precision medicine. I am especially interested in the study of disease mechanisms and drug action mechanisms, drug repositioning and the definition of mechanism-based biomarkers by modeling complex cellular systems in which signaling, regulation and metabolism information are integrated (see an example with http://hipathia.babelomics.org/). The scope of my research has evolved in parallel to the penetration of the “Big Data” concept in the life sciences. I have been working on genomic data integration and, specifically, during the last years, focusing on massive sequence data analysis. As an example of the impact of the developments of Dopazo’s group, the software GenomeMaps (www.genomemaps.org) has been chosen as the genome viewer of the International Cancer Genome Consortium data analysis portal (dcc.icgc.org). I have promoted and coordinated genomic projects such as the FutureClinic (www.futureclinic.es), to prepare the scenario for the introduction of the genome in the electronic health record, or the Medical Genome Project (www.medicalgenomeproject.com), to sequence 1000 patients of inherited diseases to search for new biomarkers and disease genes. I was also involved in international projects such as the MAQC and SEQC (best practices in the use of microarrays and NGS, respectively, for finding diagnostic biomarkers) or the START consortium to characterize the variability of the rat genome. I also coordinate the HPC4Genomics (http://www.hpc4g.org) consortium, a joint initiative of the CIPF, several universities and companies that aim to combine genomic, bioinformatic and computing skills to address the new challenges posed by the technological advancement in genomics.
SEEK ID: https://fairdomhub.org/people/752
Tools: Bioinformatics, Computational and theoretical biology, Computational Systems Biology, Data Management, Databases, Dynamic modelling, Genetics, Genomics, R, Systems Biology, Transcriptomics, Java