Fran Supek

Fran Supek

Institut de Recerca Biomèdica

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 (https://www.genomedatalab.org/) dealing with statistical genomics of genetic disease esp. cancer evolution. Fran obtained a PhD in Molecular biology in 2010 from the U. of Zagreb, while working as an early-stage researcher at the RBI, Croatia. Following a postdoctoral stay at the Centre for Genomic Regulation (as a Marie Curie fellow), in 2017 he started his group at IRB as a Ramón y Cajal fellow. Fran is the PI of the ERC StG "HYPER-INSIGHT", a PI on Horizon EU projects "DECIDER" and "LUCIA", coordinator of a CaixaResearch project "POTENT-IMMUNO", and an EMBO Young Investigator. Fran authored 52 research papers, of that 13 as first and 21 as senior/corresponding author (15/21 in top-10% journals), and additionally 3 invited review articles, cited 9379 times (H-index=31).

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 signatures of negative or positive selection, which can be challenging to distinguish from the background DNA sequence variability due to heterogeneous local mutation risk. Novel statistical methods, often based on machine learning, can provide better insight into genome evolution resulting from interplay between mutation and selection. The biological questions I addressed include learning about evolution of gene function and regulation, related to mechanisms underlying genetic disease, and cancer evolution in particular. In addition, I am interested in distributions of local mutation rates in the human germline and somatic genomes, which reveal how DNA repair is organized along chromatin.

Selected publications

- Levatic J, Salvadores M, Fuster-Tormo F & Supek F 2022, 'Mutational signatures are markers of drug sensitivity of cancer cells', Nature Communications, 13, 1, 2926.

- Alvarez MM, Biayna J & Supek F 2022, 'TP53-dependent toxicity of CRISPR/Cas9 cuts is differential across genomic loci and can confound genetic screening', Nature Communications, 13, 1, 4520.

- Mas-Ponte D, McCullough M & Supek F 2022, 'Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy', Clinical Science, 136, 5, 383 - 404.

- Karolak A, Levatic J & Supek F 2022, 'A framework for mutational signature analysis based on DNA shape parameters', Plos One, 17, 1, e0262495.

- Vali-Pour M, Lehner B* & Supek F* 2022, 'The impact of rare germline variants on human somatic mutation processes', Nature Communications, 13, 1, 3724. (*co-corresponding authors)

Selected research activities

New projects:

- coordinator of the CaixaResearch Health project "POTENT-NMD" on genetic markers of immunotherapy response (consortium with UPF)

- participating PI in the Horizon Europe RIA project "LUCIA" on lung cancer risk factors (int'l consortium of 22 members)

Presentations:

- invited talks at the ESHG conference, EMBO Cancer Signalling and EMBO YIP Genome Integrity meetings

- invited seminars to IEO/IFOM, UCL Genetics Institute, FMI, IRB-Lleida, and U of Oslo.