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
Principal Investigator
Current members
Ongoing projects
Publications
Flores-Bello A.; Mas-Ponte D.; Rosu M.E.; Bosch E.; Calafell F.; Comas D. 2018. Sequence diversity of the Rh blood group system in Basques. European Journal of Human Genetics. : doi: 10.1038/s41431-018-0232-1
Buxade M., Encabo H.H., Riera‑Borrull M., Quintana‑Gallardo L., Lopez‑Cotarelo P., Tellechea M., Martínez‑Martínez S., Redondo J.M., Martín‑Caballero J., Flores J.M., Bosch E., Rodriguez‑Fernández J.L., Aramburu J., Lopez‑Rodriguez C. 2018. Macrophage-specific MHCII expression is regulated by a remote Ciita enhancer controlled by NFAT5. Journal of Experimental Medicine. 215(11):2901-2918 doi: 10.1084/jem.20180314
Spataro N.; Roca-Umbert A.; Cervera-Carles L.; Vallès M.; Anglada R.; Pagonabarraga J.; Pascual-Sedano B.; Campolongo A.; Kulisevsky J.; Casals F.; Clarimón J.; Bosch E. 2017. Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. Movement Disorders. 32(1):165-169