Strategic Research

Comparative and Functional Genomics Group

  • Functional and evolutionary analysis of polymorphic inversions in the human genome. 
    Despite being one of the first types of genetic changes characterized, the difficulty in the study of inversions is a big challenge to current structural variation analysis. Therefore, we are developing new experimental and bioinformatic methods to obtain a reliable catalogue of polymorphic inversions in the human genome, determine their distribution in world-wide human populations, and assess their functional and evolutionary impact, both with regard to their effect on gene expression and on nucleotide variation patterns. 


  • Genomic determinants of gene-expression changes in humans. 
    What makes us humans is a question that has attracted considerable interest for many years. Several research groups, including our own, have identified hundreds of genes with expression changes in the brain of humans and our closest primate relatives. However, due to the complexity of gene expression regulation, as the next step we need a better understanding of the molecular causes and the effects of these differences and their potential association to selective processes. This research could provide important information on the regulatory mechanisms of gene-expression evolution and interesting candidates of being involved in human brain characteristics for further analysis.

Main projects

  • 1.

    Understanding genome variation from nucleotides to phenotypes in Drosophila and humans.

    Spanish Ministry of Economy and Competitiveness (BFU2013-42649-P). PI: Mario Cáceres and Antonio Barbadilla. 2014-2016

  • 2.

    Evolutionary and functional analysis of polymorphic inversions in the human genome

    ERC Starting Grant, European Research Council (ERC-2009-StG-243212, INVFEST). PI: Mario Cáceres. 2010-2015

  • 3.

    A novel high-throughput tool to genotype human genome inversions for personalized medicine

    ERC Proof of Concept Grant, European Research Council (ERC-2013-PoC-632293, INGENIHUS). PI: Mario Cáceres. 2014-2015



Bioinformatics expertise:

Group Leader:

Mario Cáceres