Tomàs Marquès-Bonet

Universitat Pompeu Fabra

Life & Medical Sciences

Dr. Marquès-Bonet is the Principal Investigator of the group "Comparative Genomics" and director of the Institute of Evolutionary Biology (IBE; UPF/CSIC) and at the CRG-CNAG. He started his own lab in 2010 with an ERC Starting Grant and was selected as ICREA in 2011. In 2013 he was selected for the EMBO young Investigator award and from 2017 he is an HHMI International young investigator. He has been part of many genome consortia, leading the section of duplications and structural variation in most of them. 

His group aims to characterize human specific genomics features, including the evolution of epigenetics in humans or the impact of CNVs in phenotypic traits. With a total of more than 100 peer-reviewed publications, he has published as a senior authorship in Science (2016), Nature (2013), Genome Research (2015), Plos Genetics (2013,2015) among others.


Research interests

What makes us human? This is a fundamental question in many disciplines. Our team analyzes a wide range of genome variants to determine processes, variants and molecular features that are intrinsic to our species. To do so, we study full genome, epigenomes and transcriptomic sequences of humans and great apes for a better understanding of human specific features.

Selected publications

- McConnell MJ et al.  & Brain Somatic Mosaicism Network (including Marques-Bonet T) 2017,  'Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network', Science356(6336)

- Nater A, Mattle-Greminger MP, Nurcahyo A, Nowak MG, de Manuel M, Desai T, Groves C, Pybus M, Sonay TB, Roos C,  Lameira AR, Wich SA, Askew J, Davila-Ross M, Fredriksson G, de Valles G, Casals F, Prado-Martinez J, Goossens B, Verschoor EJ, Warren KS, Singleton I, Marques DA, Pamungkas J, Perwitasari-Farajallah D, Rianti P, Tuuga A,  Gut IG, Gut M, Orozco-terWengel P, Van Schaik CP, Bertranpetit J, Anisimova M, Scally A, Marques-Bonet T, Meijaard E & Krützen M, 'Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species', Current Biology, 27, 22, 3487.

- Kuderna LKF, Tomlinson C, Hillier LDW, Tran A, Fiddes IT, Armstrong J, Laayouni H, Gordon D, Huddleston J, Garcia Perez R, Povolotskaya I, Serres Armero A, Gomez Garrido J, Ho D, Ribeca P, Alioto T, Green RE, Paten B, Navarro A, Betranpetit J, Herrero J, Eichler EE, Sharp AJ, Feuk L, Warren WC & Marques-Bonet T 2017, 'A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)', Gigascience, 6, 11.

- Librado P, Gamba G, Gaunitz C, ........, Keyser C, Marques-Bonet T, Ludes B, Crubezy E, Leeb T, Willerslev E & Orlando L 2017, 'Ancient genomic changes associated with domestication of the horse', Science, 356, 6336, 442 - 445.

- Solis-Moruno M, de Manuel M, Hernandez-Rodriguez J, Fontsere C, Gomara-Castano A, Valsera-Naranjo C, Crailsheim D, Navarro A, Llorente M, Riera L, Feliu-Olleta O & Marques-Bonet T 2017, 'Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation', Scientific Reports, 7, 15224.