Our research aims to explore various aspects of human genomic diversity. Using whole-genome sequencing data or high-density SNP arrays, we analyse patterns of genetic variation across human populations to gain insights into how the different evolutionary forces and our demographic history have shaped current genomic diversity. We are particularly interested in i) adaptive traits that have undergone positive selection during human evolution; ii) the role and dynamics of negative (purifying) selection; and iii) the genetic architecture of polygenic traits, including those associated with complex diseases. Through this work, we seek to deepen our understanding of human evolutionary biology and the genetic basis of traits that contribute to health and disease.

 

RESEARCH SUBLINES

1. Human genetic adaptation
We analyze whole-genome data and apply a range of evolutionary methods to investigate various modes of adaptive selection. In addition to identifying signatures of classic hard selective sweeps, we also explore more complex scenarios such as adaptive admixture, adaptive introgression, and polygenic adaptation. Beyond merely detecting genomic footprints of natural selection, our group is particularly interested in experimentally characterizing the molecular and phenotypic consequences of the selected genetic variants. This includes efforts to link these variants to their adaptive functions at the molecular level, as well as to the resulting phenotypes at the organismal level.

2. Mutational load
Deleterious variants introduced by mutation are typically removed from the population through negative (purifying) selection. However, the efficiency of this process can be significantly influenced by demographic factors such as population bottlenecks, founder effects, and inbreeding, which can reduce the efficacy of purifying selection in eliminating harmful mutations. By analyzing human populations with distinct demographic histories, we aim to understand how these events have shaped the burden and distribution of deleterious variants across the genome.

3. Genetic archictecture of polygenic traits
By analysing different evolutionary and biological features we characterize the selective pressures acting in genes associated to Mendelian and complex diseases to understand differences in penetrance, age of onset, and risk allele frequencies between genetic disorders. Also, in collaboration with Arcadi Navarro (Evolutionary Genomics Lab) we hope to provide genomic evidence for the evolutionary theories of senescence by identifying antagonistically pleiotropic variants and signatures of positive selection in pleiotropic genes associated to age-related traits.

 

RESEARCH INTERESTS

Human population genetics. Analysis of the genomic and evolutionary population forces that drive genome-wide patterns of human variation. Detection of natural selection, genetic bases of adaptation. Mutational load. Evolutionary analysis of disease-related genes.