After graduating in Biochemistry and Molecular Biology, I obtained the PhD in Molecular Biology at the University of Barcelona in 2000 in the group of Manuel Palacín working on amino acid transporters and associated genetic diseases. This PhD was awarded with the University PhD Extraordinary Prize. Then I moved with an EMBO long term fellowship to the group of Peer Bork to enter in the world of genomics, at the EMBL in Heidelberg, where I stayed from 2000 to 2006. There, I worked on genome annotation and analysis using bioinformatics approaches. Currently, since 2006, I'm a group leader at the Barcelona Supercomputing Center doing research on biomedical genomics, studying the relationship between changes in the genome and disease.
Genomes are the central molecules of life because they carry all the information necessary for the development, the survival and the reproduction of all organisms. Over the lasts 20 years, the study of the genome in a biomedical context has provided valuable information about the genetic and molecular basis of diseases. Current sequencing of DNA allows the incorporation of the genome analysis as an integrated and regular protocol within the health-care system, resulting in a Precision Medicine, where the genomic information will be determinant for a more accurate diagnosis and for the selection of a more precise treatment. In this context, our group and my research activity is focused on the design and implementation of analysis protocols, including artificial intelligence approaches to, ultimately, improve our understanding of the relationship between genomic variation and disease, and to generate the basis for more precise medical care.
- Valls-Margarit J, Galván-Femenía I et al. 2022, 'GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing', Nucleic Acids Research, 50(5):2464-2479.
- Nadeu F, Royo R, Massoni-Badosa R et al. 2022. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia', Nat Med, 28(8):1662-1671.
- Gomez-Sanchez G, Delgado-Serrano L, Carrera D et al. 2022, 'Clustering and graph mining techniques for classification of complex structural variations in cancer genomes', Scientific Reports, 12, 1, 3244.
- Font-Porterias N, García-Fernández C, Aizpurua-Iraola J, Comas D, Torrents D, de Cid R & Calafell F 2022, 'Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia', Forensic Science International-genetics, 61, 102783.