Research labs

Evolutionary Population Genetics lab

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.


Principal investigator: Elena Bosch

Members of the lab: Juan Antonio Rodríguez, PhD Student; Ana Roca-Umbert, PhD Student; Barbara Sinigaglia, PhD Student; Gabriel Felipe Rodríguez, Master Student.

Congresses organised: 1

Oral presentations and talks given: 1

Main publications and other research activities:

Delgado J, Bielig T, Bonet L, Carnero-Montoro E, Puente XS, Colomer D, Bosch E, Campo E, Lozano F (2017). Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regiments. British Journal of Haematology 177(1):147-150.

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.

Spataro N, Rodríguez JA, Navarro A, Bosch E (2017). Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Human Molecular Genetics 26 (3): 489-500.

Rodríguez JA, Marigorta UM, Hughes DA, Spataro N, Bosch E*, Navarro A* (2017). Antagonistic pleiotropy and mutation accumulation influence human senescence and disease. Nature Ecology & Evolution 1(3): 55.

Organization of a B debate on “Natural Selection in Humans: Understanding our adaptations”. Palau Macaya, Barcelona, 17th and 18th July 2017. Scientific leaders: Jaume Bertranpetit & Elena Bosch.

Doctoral Thesis Title: “Testing two evolutionary theories of ageing by using public genomewide data“. Universitat Pompeu Fabra. Student: Juan Antonio Rodriguez Pérez. Co-directed: Arcadi Navarro & Elena Bosch. Defense: 24 January 2017.

Main outreach activities:

BIOJUNIOR (Barbara and Ana)

School visit at the PRBB (Elena)

Funding (active projects in 2017 only):

Name of the project AdaptNET. Genomics of adaptation network (CGL2015-71726-REDT)
Principal investigator Julio Rozas
Funding institution Ministerio de Ciencia e Innovación


Name of the project Selección adaptativa en las poblaciones humanas (BFU2016-77961-P)
Principal investigator Jaume Bertranpetit and Elena Bosch
Funding institution Ministerio de Economía y Competitividad (AEI/FEDER/UE)


Name of the project Genètica de poblacions Humanes (HumanGenPop; 2017SGR702)
Principal investigator Jaume Bertranpetit
Funding institution AGAUR

More information:
Evolutionary Population Genetics lab’s website

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.