Fran Supek

Fran Supek

Institut de Recerca Biomèdica de Barcelona

Life & Medical Sciences

Fran Supek is an ICREA professor based at the Institute for Research in Biomedicine (IRB Barcelona), a part of the Barcelona Institute of Science and Technology. Fran leads the Genome Data Science laboratory, which specializes in large-scale statistical analyses of genomic, transcriptomic and epigenomic data. Fran obtained his PhD in Molecular biology in 2010 from the University of Zagreb, while working as an early-stage researcher at the RBI (Croatia). This was followed by a postdoctoral stay at the Centre for Genomic Regulation (as a Marie Curie fellow) and in 2017 he started his group at the IRB as a Ramon y Cajal fellow. Fran is the PI of the ERC Starting Grant HYPER-INSIGHT, an EMBO Young Investigator, and an author on 39 research papers and 2 book chapters, cited 4954 times.

Research interests

My interests focus on computational approaches for elucidating mutational processes that generate genetic diversity within populations and across species, with the goal of understanding mechanisms of mutagenesis and DNA repair. I am also interested in developing statistical frameworks for detecting genomic signatures of negative or positive selection, which are often challenging to distinguish from the background DNA sequence variability that results from accumulated mutations. Such novel methodologies provide opportunities to gain insight into evolution of genomes, by revealing details of the interplay between mutation and selection. The biological questions I addressed include learning about evolution of gene function and regulation, in particular related to mechanisms underlying stress resistance and disease. In addition, I am interested in distributions of genetic variants in the human germline and soma, which can reveal how DNA repair is organized along eukaryotic chromosomes.

Selected publications

– Lindeboom RGH, Vermeulen M, Lehner B & Supek F 2019, ‘The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy‘, Nature Genetics, 51(11):1645-1651.

– Salvadores M, Mas-Ponte D & Supek F 2019, ‘Passenger mutations accurately classify human tumors‘, Plos Computational Biology, 15(4): e1006953.

Supek F & Lehner B 2019, ‘Scales and mechanisms of somatic mutation rate variation across the human genome‘, DNA Repair, 81:102647.

– Mihelcic M, Smuc T & Supek F 2019, ‘Patterns of diverse gene functions in genomic neighborhoods predict gene function and phenotype‘, Scientific Reports, 9:19537.

– Franco I, Helgadottir HT, Moggio A, Larsson M, Vrtacnik P, Johansson A, Norgren N, Lundin P, Mas-Ponte D, Nordström J, Lundgren T, Stenvinkel P, Wennberg L, Supek F & Eriksson M 2019, ‘Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type‘, Genome Biology, 20:285.

– Zhou N, Jiang Y, Bergquist TR, Lee AJ, […], Supek F, […], Radivojac P & Friedberg I 2019, ‘The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens‘, Genome Biology, 20:244.

Selected research activities

Selected for the EMBO Young Investigator Programme.