Francesc Calafell

Group website

 

Research Outline

The general topics that interest us revolve around the genomics of individuality: what is there in our genomes that make us the way we are? What does it tell about our ancestry? How does it affect our susceptibility to diseases? How can this be applied in practical settings (i.e., in forensic genetics)? We have applied this frame to a wider scope that views the individual as part of a genealogy, sharing lineages with individuals that are related to them. We focus on the Y chromosome, which marks paternal lineages, and on the Western Mediterranean.

 

Research Lines

Phylogeography of the R1b-DF27 Y-chromosome lineage. Over 40% of Iberian males carry this type of Y chromosome, which is rare elsewhere. We are sequencing a broad sample of R1b-DF27 Y chromosomes in order to establish their phylogeny and origin in space and time.

 

Copy Number Variation in Roma (Gypsies). Besides polymorphisms involving single bases, copy number variants (CNVs) are a major source of genomic diversity. We are investigating CNVs in the Roma, given their particular demography, in order to sort which CNVs originated in them, their selection dynamics, and their putative involvement in genetic disease.

 

Unilinear genomic variation in the population residing in Catalonia. We are analyzing >800 whole genomes of people residing in Catalonia; we are focusing on the non-recombining, unilinearly transmitted portions (mtDNA and most of the Y-chromosome) in order to reconstruct the population history of Catalonia and to create a reference database for genetic forensic purposes.

 

Team during 2019-20

  • PhD students: PhD students: Simone Andrea Biagini, Carla García, Marco Antinucci

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Selected publications

 

García-Fernández C, Font-Porterias N, Kučinskas V, Sukarova-Stefanovska E, Pamjav H, Makukh H, Dobon B, Bertranpetit J, Netea MG, Calafell F, Comas D (2020) Sex-biased patterns shaped the genetic history of Roma. Sci Rep. 2020 Sep 2;10(1):14464. Doi: doi: 10.1038/s41598-020-71066-y. PMID: 32879340

 

Biagini SA, Ramos-Luis E, Comas D, Calafell F (2020) The place of Metropolitan France in the European genomic landscape. Hum Genet, 139:1091-1105. doi: 10.1007/s00439-020-02158-y. PMID: 32266522

 

Larmuseau MHD, van den Berg P, Claerhout S, Calafell F, Boattini A, Gruyters L, Vandenbosch M, Nivelle K, Decorte R, Wenseleers T. (2019) A Historical-Genetic Reconstruction of Human Extra-Pair Paternity. Curr Biol. 29(23):4102-4107.e7. doi: 10.1007/s00439-020-02158-y. PMID: 32266522

 

Font-Porterias N, Arauna LR, Poveda A, Bianco E, Rebato E, Prata MJ, Calafell F, Comas D. (2019) European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin. PLoS Genet. Sep 23;15(9): e1008417. doi: 10.1371/journal.pgen.1008417. PMID: 31545809


Biagini SA, Solé-Morata N, Matisoo-Smith E, Zalloua P, Comas D, Calafell F. (2019) People from Ibiza: an unexpected isolate in the Western Mediterranean. European Journal of Human Genetics, 27(6):941-951. doi: 10.1038/s41431-019-0361-1. PMID: 30765884

 

Other relevant information 

Appointed director of the newly created “Càtedra Eugin UPF” on assisted reprodcution.

Organizer, “The many faces of becoming a parent” online symposium, 18/09/20

 

Ancestry profiles for 10 French targets. Each map is a target defining a specific major area of the French territory. On the left of each map, the donut chart represents the ancestry profile for the not masked analysis (NM); on the right the same analysis has been masked (M). The different colors represent proportions of haplotype sharing with a specific source. Brown refers to contributions coming from other French groups. B1 and B2, Brittany; NE, NorthEast; CSW1, Central-SouthWest; SE, SouthWest; Bas, Basques; G1 and G2, Gascons; CN, Central-North; SW, SouthWest. Credit: Simone Andrea Biagini