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 Principal Investigator

Current members Current members

Ongoing projects Ongoing projects

Publications Publications

Urnikyte A.; Flores-Bello A.; Mondal M.; Molyte A.; Comas D.; Calafell F.; Bosch E.; Kučinskas V.   2019. Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data. Scientific Reports. 9163 doi: doi: 10.1038/s41598-019-45746-3

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.; Rodríguez, J.A.; Navarro, A.; and Bosch, E. 2017. Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Hum Mol Genet.

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


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