Human Genome Diversity Lab

Ena GF, Giménez A, Carballo-Mesa A, Lišková P, Araújo Castro E Silva M, Comas D. 2025. The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula. Human Genetics. Published online. DOI: 10.1007/s00439-025-02735-z.

Vilà-Valls L, Abdeli A, Lucas-Sánchez M, Bekada A, Calafell F, Benhassine T, Comas D. 2024. Understanding the genomic heterogeneity of North African Imazighen: from broad to microgeographical perspectives. Scientific Reports, 14(1):9979. DOI:10.1038/s41598-024-60568-8

Serradell JM, Lorenzo-Salazar JM, Flores C, Lao O, Comas D. 2024. Modelling the demographic history of human North African genomes points to a recent soft split divergence between populations. Genome Biology, 25(1):201. DOI:10.1186/s13059-024-03341-4

Vilà-Valls L, Aizpurua-Iraola J, Casinge S, Bojs K, Flores-Bello A, Font-Porterias N, Comas D. 2023. Genomic insights into the population history of the Resande or Swedish Travellers. Genome Biology and Evolution, 15(2). DOI:10.1093/gbe/evad006.

Lucas-Sánchez M, Abdeli A, Bekada A, Calafell F, Benhassine T, Comas D. 2023. The impact of recent demography on functional genetic variation in North African human groups. Molecular Biology and Evolution. DOI:10.1093/molbev/msad283

Lucas-Sánchez M, Fadhlaoui-Zid K, Comas D. 2023. The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates. Human Genetics, 142(2):305-320. DOI:10.1007/s00439-022-02503-3

Couto-Silva CM, Nunes K, Venturini G, Araújo Castro E Silva M, Pereira LV, Comas D, Pereira A, Hünemeier T. 2023. Indigenous people from Amazon show genetic signatures of pathogen-driven selection. Science Advances, 9(10):1-10. DOI:10.1126/sciadv.abo0234

Caro-Consuegra R, Lucas-Sánchez M, Comas D, Bosch E. 2023. Identifying signatures of positive selection in human populations from North Africa. Scientific Reports, 13(1):8166. DOI:10.1038/s41598-023-35312-3

Antinucci M, Comas D, Calafell F. 2023. Population history modulates the fitness effects of Copy Number Variation in the Roma. Human Genetics, 142(9): 1327-1343. DOI:10.1007/s00439-023-02579-5

Aizpurua-Iraola J, Abdeli A, Benhassine T, Calafell F, Comas D. 2023. Whole mitogenomes reveal that NW Africa has acted both as a source and a destination for multiple human movements. Scientific Reports, 13(1):10395. DOI:10.1038/s41598-023-37549-4

Aizpurua-Iraola J, Rasal R, Prieto L, Comas D, Bonet N, Casals F, Calafell F, Vásquez P. 2023. Population analysis of complete mitogenomes for 334 samples from El Salvador. Forensic Science International: Genetics, 66(June):102906. DOI:10.1016/j.fsigen.2023.102906

Font-Porterias N, McNelis MG, Comas D, Hlusko LJ. 2022. Evidence of Selection in the Ectodysplasin Pathway among Endangered Aquatic Mammals. Integrative Organismal Biology, 4(1). DOI:10.1093/iob/obac018

Font-Porterias N, García-Fernández C, Aizpurua-Iraola J, Comas D, Torrents D, de Cid R, Calafell F. 2022. Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia. Forensic Science International: Genetics, 61(September):102783. DOI:10.1016/j.fsigen.2022.102783

Castro E Silva MA, Ferraz T, Couto-Silva CM, Lemes RB, Nunes K, Comas D, Hünemeier T. 2022. Population histories and genomic diversity of South American natives. Molecular Biology and Evolution, 39(1). DOI:10.1093/molbev/msab339

Aizpurua-Iraola J, Giménez A, Carballo-Mesa A, Calafell F, Comas D. 2022. Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks. Scientific Reports, 12(1):18720. DOI:10.1038/s41598-022-23349-9

Lucas-Sánchez M, Font-Porterias N, Calafell F, Fadhlaoui-Zid K, Comas D. 2021. Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation. Scientific Reports, 11(1):21125. DOI:10.1038/s41598-021-00576-0

Lucas-Sánchez M, Serradell JM, Comas D. 2021. Population history of North Africa based on modern and ancient genomes. Human Molecular Genetics, 30(R1):R17–R23. DOI: 10.1093/hmg/ddaa261

García A, Nores R, Motti JMB, Pauro M, Luisi P, Bravi CM, Fabra M, Gosling AL, Kardailsky O, Boocock J, Solé-Morata N, Matisoo-Smith EA, Comas D, Demarchi DA. 2021. Ancient and modern mitogenomes from Central Argentina: New insights into population continuity, temporal depth and migration in South America. Human Molecular Genetics, 30(13):1200-1217. DOI:10.1093/hmg/ddab105

Font-Porterias N, Caro-Consuegra R, Lucas-Sánchez M, Lopez M, Giménez A, Carballo A, Bosch E, Calafell F, Quintana-Murci L, Comas D. 2021. The counteracting effects of demography on functional genomic variation: the Roma paradigm. Molecular Biology and Evolution, 38(7):2804-2817. DOI: 10.1093/molbev/msab070. 

Font-Porterias N, Giménez A, Carballo-Mesa A, Calafell F, Comas D. 2021. Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants. Frontiers in Genetics, 12(June):1-12. DOI:10.3389/fgene.2021.683880

Flores-Bello A, Bauduer F, Salaberria J, Oyharçabal B, Calafell F, Bertranpetit J, Quintana-Murci L, Comas D. 2021. Genetic origins, singularity, and heterogeneity of Basques. Current Biology, 31: 1-11. DOI: 10.1016/j.cub.2021.03.010

Flores-Bello A, Font-Porterias N, Aizpurua-Iraola J, Duarri-Redondo S, Comas D. 2021. The genetic scenario of Mercheros: an under-represented group within the Iberian Peninsula. BMC Genomics, 22(1):897. DOI:10.1186/s12864-021-08203-y

Castro E Silva MA, Ferraz T, Bortolini MC, Comas D, Hünemeier T. 2021. Deep genetic affinity between coastal Pacific and Amazonian natives evidenced by Australasian ancestry. Proceedings of the National Academy of Sciences of the United States of America, 118(14):1-3. DOI: 10.1073/pnas.2025739118. 

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. Scientific Reports, 10(1):14464. DOI: 10.1038/s41598-020-71066-y

Dobon B, Ter Horst R, Laayouni H, Mondal M, Bianco E, Comas D, Ioana M, Bosch E, Bertranpetit J, Netea MG. 2020. The shaping of immunological responses through natural selection after the Roma Diaspora. Scientific Reports, 10(1):1–12. DOI: 10.1038/s41598-020-73182-1

Castro E Silva MA, Nunes K, Lemes RB, Mas-Sandoval À, Guerra Amorim CE, Krieger JE, Mill JG, Salzano FM, Bortolini MC, Pereira ADC, Comas D, Hünemeier T. 2020. Genomic insight into the origins and dispersal of the Brazilian coastal natives. Proceedings of the National Academy of Sciences of the United States of America, 117(5):2372–2377. DOI:10.1073/pnas.1909075117

Bianco E, Laval G, Font-Porterias N, García-Fernández C, Dobon B, Sabido-Vera R, Sukarova Stefanovska E, Kučinskas V, Makukh H, Pamjav H, Quintana-Murci L, Netea MG, Bertranpetit J, Calafell F, Comas D. 2020. Recent common origin, reduced population size, and marked admixture have shaped European roma genomes. Molecular Biology and Evolution, 37(11):3175–3187. DOI: 10.1093/molbev/msaa156

Biagini SA, Ramos-Luis E, Comas D, Calafell F. 2020. The place of metropolitan France in the European genomic landscape. Human Genetics, 139(8):1091–1105. DOI: 10.1007/s00439-020-02158-y

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, 9(1):1-11. DOI:10.1038/s41598-019-45746-3

Serra-Vidal G, Lucas-Sanchez M, Fadhlaoui-Zid K, Bekada A, Zalloua P, Comas D. 2019. Heterogeneity in Palaeolithic Population Continuity and Neolithic Expansion in North Africa. Current Biology, 29(22):3953-3959. DOI:10.1016/j.cub.2019.09.050

Secolin R, Mas-Sandoval A, Arauna LR, Torres FR, de Araujo TK, Santos ML, Rocha CS, Carvalho BS, Cendes F, Lopes-Cendes I, Comas D. 2019. Distribution of local ancestry and evidence of adaptation in admixed populations. Scientific Reports, 9(1):1-12. DOI:10.1038/s41598-019-50362-2

Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI. 2019. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis. Scientific Reports, 9(1):1-6. DOI:10.1038/s41598-019-40874-2

Pimenta J, Lopes AM, Carracedo A, Arenas M, Amorim A, Comas D. 2019. Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula. Scientific Reports, 9(1):1-9. DOI:10.1038/s41598-019-44121-6

Mas-Sandoval A, Arauna LR, Gouveia MH, Barreto ML, Horta BL, Lima-Costa MF, Pereira AC, Salzano FM, Hünemeier T, Tarazona-Santos E, Bortolini MC, Comas D. 2019. Reconstructed Lost Native American Populations from Eastern Brazil Are Shaped by Differential Jê/Tupi Ancestry. Genome Biology and Evolution, 11(9):2593-2604. DOI:10.1093/gbe/evz161

Lorente-Galdos B, Lao O, Serra-Vidal G, Santpere G, Kuderna LFK, Arauna LR, Fadhlaoui-Zid K, Pimenoff VN, Soodyall H, Zalloua P, Marques-Bonet T, Comas D. 2019. Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations. Genome Biology, 20(1):1-15. DOI:10.1186/s13059-019-1684-5

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 Genetics, 15(9):1-24. DOI:10.1371/journal.pgen.1008417

Arauna LR, Hellenthal G, Comas D. 2019. Dissecting human North African gene-flow into its western coastal surroundings. Proceedings of the Royal Society B: Biological Sciences, 286(1902). DOI:10.1098/rspb.2019.0471.

Viscardi LH, Paixão-Côrtes VR, Comas D, Salzano FM, Rovaris D, Bau CD, Amorim CEG, Bortolini MC. 2018. Searching for ancient balanced polymorphisms shared between Neanderthals and modern humans. Genetics and Molecular Biology. 2018;41(1):67-81. doi:10.1590/1678-4685-gmb-2017-0308

Font-Porterias N, Solé-Morata N, Serra-Vidal G, Bekada A, Fadhlaoui-Zid K, Zalloua P, Calafell F, Comas D. 2018. The genetic landscape of Mediterranean North African populations through complete mtDNA sequences. Annals of Human Biology, 45(1):98-104. DOI:10.1080/03014460.2017.1413133

Flores-Bello A, Mas-Ponte D, Rosu ME, Bosch E, Calafell F, Comas D. 2018. Sequence diversity of the Rh blood group system in Basques. European Journal of Human Genetics, 26(12):1859-1866. DOI:10.1038/s41431-018-0232-1

Comas D, Luiselli D, Rickards O. 2018. Human population genetics of the Mediterranean. Annals of Human Biology, 45(1):1-4. DOI:10.1080/03014460.2017.1416909

Solé-Morata N, García-Fernández C, Urasin V, Bekada A, Fadhlaoui-Zid K, Zalloua P, Comas D, Calafell F. 2017. Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81). Scientific Reports, 7(1):1-11. DOI:10.1038/s41598-017-16271-y

Reales G, Rovaris DL, Jacovas VC, Hünemeier T, Sandoval JR, Salazar-Granara A, Demarchi DA, Tarazona-Santos E, Felkl AB, Serafini MA, Salzano FM, Bisso-Machado R, Comas D, Paixão-Côrtes VR, Bortolini MC. 2017. A tale of agriculturalists and hunter-gatherers: Exploring the thrifty genotype hypothesis in native South Americans. American Journal of Physical Anthropology, 163(3):591-601. DOI:10.1002/ajpa.23233

Pimenta J, Lopes AM, Comas D, Amorim A, Arenas M. 2017. Evaluating the neolithic expansion at both shores of the mediterranean sea. Molecular Biology and Evolution, 34(12):3232-3242. DOI:10.1093/molbev/msx256

Nagle N, van Oven M, Wilcox S, van Holst Pellekaan S, Tyler-Smith C, Xue Y, Ballantyne KN, Wilcox L, Papac L, Cooke K, van Oorschot RA, McAllister P, Williams L, Kayser M, Mitchell RJ, Genographic Consortium. 2017. Aboriginal Australian mitochondrial genome variation - An increased understanding of population antiquity and diversity. Scientific Reports, 7:1-12. DOI:10.1038/srep43041

Franco-Jarava C, Comas D, Orren A, Hernández-González M, Colobran R. 2017. Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease. Clinical and Experimental Immunology, 189(2):226-231. DOI:10.1111/cei.12967

Emmerova B, Ehler E, Comas D, Votrubova J, Vanek D. 2017. Comparison of Y-chromosomal haplogroup predictors. Forensic Science International: Genetics Supplement Series, 6:e145-e147. DOI:10.1016/j.fsigss.2017.09.025

Casals F, Anglada R, Bonet N, Rasal R, van der Gaag KJ, Hoogenboom J, Solé-Morata N, Comas D, Calafell F. 2017. Length and repeat-sequence variation in 58 STRs and 94 SNPs in two Spanish populations. Forensic Science International: Genetics, 30:66-70. DOI:10.1016/j.fsigen.2017.06.006

Arauna LR, Mendoza-Revilla J, Mas-Sandoval A, Izaabel H, Bekada A, Benhamamouch S, Fadhlaoui-Zid K, Zalloua P, Hellenthal G, Comas D. 2017. Recent Historical Migrations Have Shaped the Gene Pool of Arabs and Berbers in North Africa. Molecular biology and evolution, 34(2):318-329. DOI:10.1093/molbev/msw218