Mario Cáceres

Universitat Autònoma de Barcelona

Life & Medical Sciences

Mario Cáceres obtained his PhD at the Universitat Autònoma de Barcelona (UAB) working on Drosophila chromosomal rearrangements (1995-2000). He then moved to the USA as a postdoc at the Salk Institute for Biological Studies (2001-2003) and Emory University (2003-2006), where his research shifted to the use of novel genomic techniques to compare gene-expression levels in humans and non-human primates, as a way to study human unique characteristics. In 2006 he got a Ramón y Cajal position at the Centre for Genomic Regulation in Barcelona, and focused on the identification of genomic changes with potential functional consequences in the human lineage, such as those associated with expression differences and structural variants, especially inversions. In 2010 he joined ICREA and since then he leads the Comparative and Functional Genomics group at the Institut de Biotecnologia i de Biomedicina (IBB) of the UAB, where he is also an associate professor.

Research interests

The genomic revolution has unveiled extraordinary possibilities unthought-of before. In particular, we are interested in understanding genomic structural variation and gene-expression changes, and how they relate to individual and species differences. To address these questions, we use humans as a model and take a multidisciplinary approach that combines experimental and bioinformatic analysis of the great wealth of data available, generating results of interest to many diverse fields. Our main line of research is the global analysis of polymorphic inversions in the human genome, which aims to investigate the biological significance of one of the less known types of variants in humans. This ranges from the development of new methods for inversion study and the first database of human polymorphic inversions, to the characterization of their population distribution, functional effects and selection signatures, as a way to ultimately determine their contribution to complex traits.

Selected research activities

− Ruth Gómez Master Thesis. Title: Improving interoperability between InvFEST and PopHuman. Universitat Autònoma de Barcelona, October 5, 2018.

− Claudia Ramírez Master Thesis. Title: Characterization, validation and genotyping of inversions predicted with new genomic techniques, July 12, 2018.

− Invited speaker at the 4th Annual Danish Bioinformatics Conference, August 29-30 2018. Odense, Denmark.

− Co-organizer of the VI Bioinformatics and Genomics Symposium of the Societat Catalana de Biologia. December 20, 2018. Barcelona, Spain.

− Member of the Programme Committee of the Next Generation Sequencing Conference 2018 (NGS 2018). April 9-11, 2018. Barcelona, Spain.

− Coordinator of the Genomics and Proteomics Section of the Societat Catalana de Biologia.

− Member of the Committee of the Antoni Prevosti Award for the Best Oral Communication of the XVIII Symposium of Evolutionary Biology from the Societat Catalana de Biologia. June 25, 2018. Barcelona, Spain.

− BMC Genomics Associate Editor.

− Genes Journal Associate Editor.