This lab carries out research into different aspects of human genetic diversity, such as the architecture of the genetic predisposition to complex disease and of human adaptation. To this end, sequencing data from different control/case settings or geographically diverse populations are often analysed, and methods for rare variant association and genome-wide detection of selection are subsequently applied. By using in silico predictions, molecular biology techniques and phenotypic data, the Evolutionary Population Genetics lab aims to elucidate the genetic variants and molecular phenotypes underlying the functional basis of different human adaptations.
Lab website: Bosch Lab
Spataro, N.; Calafell, F.; Cervera-Carles, L.; [6 authors]; Navarro, A.; iClarimón, J.; Bosch, E. 2015. Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease. Human Molecular Genetics 24(7): 2023-2034.
Santpere, G.; Carnero-Montoro., E.; Petit, N.; [5 authors]; Dopazo, H.; Navarro, A.; Bosch, E. 2015. Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements. Genome Biology and Evolution 7(6): 1490-1505.
Engelken, J.; Carnero-Montoro, E.; Pybus, M.; Andrews, G.K.; Lalueza-Fox, C.; Comas, D.; Sekler, I.; de la Rasilla, M.; Rosas, A.; Stoneking, M.; Valverde, M.A.; Vicente, R.; and Bosch, E. 2014. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa. PLoS Genet. 10 (2):e1004128