During the last years the genomic revolution has provide unique research opportunities unthought-of before. Our laboratory is focused in the study of genome evolution and the genetic changes associated with individual and species differences, applying the newest genomic techniques and the great wealth of genomic data available. In particular, a great degree of structural variation, including hundreds of copy number variants (insertions, duplications and deletions) and inversions have been discovered in multiple organisms. In addition, we now have the information of the variation of expression levels of thousands of genes in different tissues and individuals of many species. However, we still know very little about the functional consequences of these changes and the role that might have played during evolution. 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.