Comparative and Functional Genomics Mario Cáceres Aguilar

During the last years, the genomic revolution has provided unique research opportunities. Our group is focused on applying the newest genomic techniques and the great wealth of available genomic data to the characterization of genetic changes across individuals and species and how they translate into phenotypic and disease susceptibility differences.

To address these questions, we use humans as a model and take a multidisciplinary approach that combines experimental and bioinformatic analysis, generating results of interest to diverse fields. In particular, a significant degree of structural variation, including hundreds of copy number variants (insertions, duplications, and deletions) and inversions, has been discovered in multiple organisms.

In addition, we now have information on the variation in expression levels of thousands of genes in diverse tissues and individuals of many species. However, we still need to learn more about the functional and evolutionary impact of these changes. Therefore, our main line of research deals with 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.