Human Genome Diversity Lab

Vilà-Valls L, Garcia-Calleja J, Prado-Martinez J, Bosch E, Andrés AM, Netea MG, Comas D, Hassan HY. 2026. Sudan’s Complex Genetic Admixture History Drives Adaptation to Malaria in Sudanese Copts. Proceedings of the National Academy of Sciences of the United States of America, 123:e2516263123. DOI: 10.1073/pnas.2516263123.

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, 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

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. 

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

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

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

Amorim CE, Nunes K, Meyer D, Comas D, Bortolini MC, Salzano FM, Hünemeier T. 2017. Genetic signature of natural selection in first Americans. Proceedings of the National Academy of Sciences of the United States of America, 114(9):2195-2199. DOI:10.1073/pnas.1620541114

Mondal M, Casals F, Xu T, Dall'Olio GM, Pybus M, Netea MG, Comas D, Laayouni H, Li Q, Majumder PP, Bertranpetit J. 2016. Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation. Nature Genetics, 48(9):1066-1070. DOI:10.1038/ng.3621

Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D. 2016. Origins, admixture and founder lineages in European Roma. European Journal of Human Genetics, 24(6):937-943. DOI:10.1038/ejhg.2015.201

Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, Reich D. 2016. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature, 538(7624):201-206. DOI:10.1038/nature18964

Lobon I, Tucci S, de Manuel M, Ghirotto S, Benazzo A, Prado-Martinez J, Lorente-Galdos B, Nam K, Dabad M, Hernandez-Rodriguez J, Comas D, Navarro A, Schierup MH, Andres AM, Barbujani G, Hvilsom C, Marques-Bonet T. 2016. Demographic history of the genus Pan inferred from whole mitochondrial genome reconstructions. Genome Biology and Evolution, 8(6):2020-2030. DOI:10.1093/gbe/evw124

Lazaridis I, Nadel D, Rollefson G, Merrett DC, Rohland N, Mallick S, Fernandes D, Novak M, Gamarra B, Sirak K, Connell S, Stewardson K, Harney E, Fu Q, Gonzalez-Fortes G, Jones ER, Roodenberg SA, Lengyel G, Bocquentin F, Gasparian B, Monge JM, Gregg M, Eshed V, Mizrahi AS, Meiklejohn C, Gerritsen F, Bejenaru L, Blüher M, Campbell A, Cavalleri G, Comas D, Froguel P, Gilbert E, Kerr SM, Kovacs P, Krause J, McGettigan D, Merrigan M, Merriwether DA, O'Reilly S, Richards MB, Semino O, Shamoon-Pour M, Stefanescu G, Stumvoll M, Tönjes A, Torroni A, Wilson JF, Yengo L, Hovhannisyan NA, Patterson N, Pinhasi R, Reich D. 2016. Genomic insights into the origin of farming in the ancient Near East. Nature, 536(7617):419-424. DOI:10.1038/nature19310

Haber M, Mezzavilla M, Xue Y, Comas D, Gasparini P, Zalloua P, Tyler-Smith C.  2016. Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations. European Journal of Human Genetics, 24(6):931-936. DOI:10.1038/ejhg.2015.206

Flesch BK, Morar B, Comas D, Muñiz-Diaz E, Nogués N, Kalaydjieva L. 2016. The AQP1 del601G mutation in different European Romani (Gypsy) populations. Blood Transfusion, 14(6):580-581. DOI:10.2450/2016.0274-15

Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. 2016. Novel Mutations Causing C5 Deficiency in Three North-African Families. Journal of Clinical Immunology, 36(4):388-396. DOI:10.1007/s10875-016-0275-4

Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N, Huddleston J, Coe BP, Baker C, Nordenfelt S, Bamshad M, Jorde LB, Posukh OL, Sahakyan H, Watkins WS, Yepiskoposyan L, Abdullah MS, Bravi CM, Capelli C, Hervig T, Wee JT, Tyler-Smith C, van Driem G, Romero IG, Jha AR, Karachanak-Yankova S, Toncheva D, Comas D, Henn B, Kivisild T, Ruiz-Linares A, Sajantila A, Metspalu E, Parik J, Villems R, Starikovskaya EB, Ayodo G, Beall CM, Di Rienzo A, Hammer MF, Khusainova R, Khusnutdinova E, Klitz W, Winkler C, Labuda D, Metspalu M, Tishkoff SA, Dryomov S, Sukernik R, Patterson N, Reich D, Eichler EE. 2015. Global diversity, population stratification, and selection of human copy-number variation. Science, 349(6253). DOI:10.1126/science.aab3761

Solé-Morata N, Bertranpetit J, Comas D, Calafell F. 2015. Y-chromosome diversity in Catalan suRNAme samples: Insights into suRNAme origin and frequency. European Journal of Human Genetics, 23(11):1549-1557. DOI:10.1038/ejhg.2015.14

Dobon B, Hassan HY, Laayouni H, Luisi P, Ricaño-Ponce I, Zhernakova A, Wijmenga C, Tahir H, Comas D, Netea MG, Bertranpetit J. 2015. The genetics of East African populations: A Nilo-Saharan component in the African genetic landscape. Scientific Reports, 5(November 2014):1-11. DOI:10.1038/srep09996

Bilgin Sonay T, Carvalho T, Robinson MD, Greminger MP, Krützen M, Comas D, Highnam G, Mittelman D, Sharp A, Marques-Bonet T, Wagner A. 2015. Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Research, 25(11):1591-1599. DOI:10.1101/gr.190868.115

Bekada A, Arauna LR, Deba T, Calafell F, Benhamamouch S, Comas D. 2015. Genetic heterogeneity in Algerian human populations. PLoS ONE, 10(9):1-15. DOI:10.1371/journal.pone.0138453

Solé-Morata, N.; Bertranpetit, J.; Comas, D.; and Calafell, F. 2014. Recent Radiation of R-M269 and High Y-STR Haplotype Resemblance Confirmed. Annals of Human Genetics 78 (4):253-254.

Lansari A, Hugemann K, Hauswaldt JS, Donaire D, Slimani T, Tejedo M, Joger U, González De La Vega JP, Díaz-Rodríguez J, Galán P, De Pous P, Nicolas V, Carranza S, Vences M, Barnestein JAM, Bouazza A, Sanuy D, Bogaerts S, El Mouden H, Ohler A, Amat F. 2014. New insights on phylogeography and distribution of painted frogs (Discoglossus) in northern Africa and the Iberian Peninsula. Amphibia Reptilia, 35(3):305-320. DOI:10.1163/15685381-00002954

Engelken J, Carnero-Montoro E, Pybus M, Andrews GK, Lalueza-Fox C, Comas D, Sekler I, de la Rasilla M, Rosas A, Stoneking M, Valverde MA, Vicente R, Bosch E. 2014. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa. PLoS Genetics, 10(2). DOI:10.1371/journal.pgen.1004128

Elhaik E, Tatarinova T, Chebotarev D, Piras IS, Maria Calò C, De Montis A, Atzori M, Marini M, Tofanelli S, Francalacci P, Pagani L, Tyler-Smith C, Xue Y, Cucca F, Schurr TG, Gaieski JB, Melendez C, Vilar MG, Owings AC, Gómez R, Fujita R, Santos FR, Comas D, Balanovsky O, Balanovska E, Zalloua P, Soodyall H, Pitchappan R, Ganeshprasad A, Hammer M, Matisoo-Smith L, Wells RS; Genographic Consortium. 2014. Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Nature Communications, 5. DOI:10.1038/ncomms4513

Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D'Amato ME, Davison S, de Knijff P, De Ungria MC, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MH, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SP, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Skaro V, Solano-Matamoros C, Souto L, Stenzl V, Sudoyo H, Syndercombe-Court D, Tagliabracci A, Taylor D, Tillmar A, Tsybovsky IS, Tyler-Smith C, van der Gaag KJ, Vanek D, Völgyi A, Ward D, Willemse P, Yap EP, Yong RY, Pajnič IZ, Kayser M. 2014. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats. Human Mutation, 35(8):1021-1032. DOI:10.1002/humu.22599

Setó-Salvia N, Sánchez-Quinto F, Carbonell E, Lorenzo C, Comas D, Clarimón J. 2013. Using the Neandertal and Denisova genetic data to understand the common MAPT 17q21 inversion in modern humans. Human Biology, 84(6):633-640. DOI:10.3378/027.084.0605

Rębała K, Martínez-Cruz B, Tönjes A, Kovacs P, Stumvoll M, Lindner I, Büttner A, Wichmann HE, Siváková D, Soták M, Quintana-Murci L, Szczerkowska Z, Comas D; Genographic Consortium. 2013. Contemporary paternal genetic landscape of Polish and German populations: From early medieval Slavic expansion to post-World War II resettlements. European Journal of Human Genetics, 21(4):415-422. DOI:10.1038/ejhg.2012.190

Prieto L, Alves C, Zimmermann B, Tagliabracci A, Prieto V, Montesino M, Whittle MR, Anjos MJ, Cardoso S, Heinrichs B, Hernandez A, López-Parra AM, Sala A, Saragoni VG, Burgos G, Marino M, Paredes M, Mora-Torres CA, Angulo R, Chemale G, Vullo C, Sánchez-Simón M, Comas D, Puente J, López-Cubría CM, Modesti N, Aler M, Merigioli S, Betancor E, Pedrosa S, Plaza G, Masciovecchio MV, Schneider PM, Parson W. 2013. GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results. Forensic Science International: Genetics, 7(1):10-15. DOI:10.1016/j.fsigen.2012.04.006

Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prüfer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubí C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, Kiyang JA, Bergl RA, Lonsdorf E, Myers S, Ventura M, Gagneux P, Comas D, Siegismund H, Blanc J, Agueda-Calpena L, Gut M, Fulton L, Tishkoff SA, Mullikin JC, Wilson RK, Gut IG, Gonder MK, Ryder OA, Hahn BH, Navarro A, Akey JM, Bertranpetit J, Reich D, Mailund T, Schierup MH, Hvilsom C, Andrés AM, Wall JD, Bustamante CD, Hammer MF, Eichler EE, Marques-Bonet T. 2013. Great ape genetic diversity and population history. Nature, 499(7459):471-475. DOI:10.1038/nature12228

Montano V, Marcari V, Pavanello M, Anyaele O, Comas D, Destro-Bisol G, Batini C. 2013. The influence of habitats on female mobility in Central and Western Africa inferred from human mitochondrial variation. BMC Evolutionary Biology, 13(1). DOI:10.1186/1471-2148-13-24

Messina, F.;  Finocchio, A.; Rolfo, M. F.; [8 authors]; Berti, A.; Comas, D.; Rickards, O. 2013. Genetic analysis of some mountain communities of Central Italy isolated areas. American Journal of Physical Anthropology. 150:197-198

Mendizabal, I.; Lao, O.; Marigorta, U. M.; Kayser, M.; Comas, D. 2013. Implications of Population History of European Romani on Genetic Susceptibility to Disease. Human Heredity. 76 (3-4):194-200

Haber M, Gauguier D, Youhanna S, Patterson N, Moorjani P, Botigué LR, Platt DE, Matisoo-Smith E, Soria-Hernanz DF, Wells RS, Bertranpetit J, Tyler-Smith C, Comas D, Zalloua PA. 2013. Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture. PLoS Genetics, 9(2). DOI:10.1371/journal.pgen.1003316

Fadhlaoui-Zid K, Haber M, Martínez-Cruz B, Zalloua P, Elgaaied AB, Comas D. 2013. Genome-wide and paternal diversity reveal a recent origin of human populations in north africa. PLoS ONE, 8(11). DOI:10.1371/journal.pone.0080293

Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C, Richards SM, Der Sarkissian C, Ganslmeier R, Friederich S, Dresely V, van Oven M, Kenyon R, Van der Hoek MB, Korlach J, Luong K, Ho SYW, Quintana-Murci L, Behar DM, Meller H, Alt KW, Cooper A; Genographic Consortium. 2013. Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans. Nature Communications, 4. DOI:10.1038/ncomms2656

Botigué LR, Henn BM, Gravel S, Maples BK, Gignoux CR, Corona E, Atzmon G, Burns E, Ostrer H, Flores C, Bertranpetit J, Comas D, Bustamante CD. 2013. Gene flow from North Africa contributes to differential human genetic diversity in southern europe. Proceedings of the National Academy of Sciences of the United States of America, 110(29):11791-11796. DOI:10.1073/pnas.1306223110

Boattini A, Martinez-Cruz B, Sarno S, Harmant C, Useli A, Sanz P, Yang-Yao D, Manry J, Ciani G, Luiselli D, Quintana-Murci L, Comas D, Pettener D; Genographic Consortium. 2013. Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata. PLoS ONE, 8(5). DOI:10.1371/journal.pone.0065441

Badro DA, Douaihy B, Haber M, Youhanna SC, Salloum A, Ghassibe-Sabbagh M, Johnsrud B, Khazen G, Matisoo-Smith E, Soria-Hernanz DF, Wells RS, Tyler-Smith C, Platt DE, Zalloua PA; Genographic Consortium. 2013. Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations. PLoS ONE, 8(1). DOI:10.1371/journal.pone.0054616

Schurr TG, Dulik MC, Owings AC, Zhadanov SI, Gaieski JB, Vilar MG, Ramos J, Moss MB, Natkong F; Genographic Consortium. 2012. Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. American Journal of Physical Anthropology, 148(3):422-435. DOI:10.1002/ajpa.22068

Sandoval K, Moreno-Estrada A, Mendizabal I, Underhill PA, Lopez-Valenzuela M, Peñaloza-Espinosa R, Lopez-Lopez M, Buentello-Malo L, Avelino H, Calafell F, Comas D. 2012. Y-chromosome diversity in Native Mexicans reveals continental transition of genetic structure in the Americas. American Journal of Physical Anthropology, 148(3):395-405. DOI:10.1002/ajpa.22062

Sánchez-Quinto F, Botigué LR, Civit S, Arenas C, Avila-Arcos MC, Bustamante CD, Comas D, Lalueza-Fox C. 2012. North African Populations Carry the Signature of Admixture with Neandertals. PLoS ONE, 7(10):1-6. DOI:10.1371/journal.pone.0047765

Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A. 2012. Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates. Pharmacogenetics and Genomics, 22(12):846-857. DOI:10.1097/FPC.0b013e32835a3a6d

Mendizabal I, Marigorta UM, Lao O, Comas D. 2012. Adaptive evolution of loci covarying with the human African Pygmy phenotype. Human Genetics, 131(8):1305-1317. DOI:10.1007/s00439-012-1157-3

Mendizabal I, Lao O, Marigorta UM, Wollstein A, Gusmão L, Ferak V, Ioana M, Jordanova A, Kaneva R, Kouvatsi A, Kučinskas V, Makukh H, Metspalu A, Netea MG, de Pablo R, Pamjav H, Radojkovic D, Rolleston SJ, Sertic J, Macek M Jr, Comas D, Kayser M. 2012. Reconstructing the population history of European Romani from genome-wide data. Current Biology, 22(24):2342-2349. DOI:10.1016/j.cub.2012.10.039

Melé M, Javed A, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, Pitchappan RM, Arunkumar G, Parida L, Calafell F, Bertranpetit J; Genographic Consortium. 2012. Recombination gives a new insight in the effective population size and the history of the old world human populations. Molecular Biology and Evolution, 29(1):25-30. DOI:10.1093/molbev/msr213

Martínez-Cruz B, Harmant C, Platt DE, Haak W, Manry J, Ramos-Luis E, Soria-Hernanz DF, Bauduer F, Salaberria J, Oyharçabal B, Quintana-Murci L, Comas D; Genographic Consortium. 2012. Evidence of pre-roman tribal genetic structure in basques from uniparentally inherited markers. Molecular Biology and Evolution, 29(9):2211-2222. DOI:10.1093/molbev/mss091

Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantinga T, van der Meer JW, Comas D, Netea MG; Genographic Consortium. 2012. Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings. PLoS ONE, 7(7). DOI:10.1371/journal.pone.0041803

Lu Y, Wang C, Qin Z, Wen B, Farina SE, Jin L, Li H; Genographic Consortium. 2012. Mitochondrial origin of the matrilocal Mosuo people in China. Mitochondrial DNA, 23(1):13-19. DOI:10.3109/19401736.2011.643875

Kang L, Lu Y, Wang C, Hu K, Chen F, Liu K, Li S, Jin L, Li H; Genographic Consortium. 2012. Y-chromosome O3 Haplogroup Diversity in Sino-Tibetan Populations Reveals Two Migration Routes into the Eastern Himalayas. Annals of Human Genetics, 76(1):92-99. DOI:10.1111/j.1469-1809.2011.00690.x

Javed A, Melé M, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, Arunkumar G, Pitchappan R, Bertranpetit J, Calafell F, Parida L; Genographic Consortium. 2012. Recombination networks as genetic markers in a human variation study of the Old World. Human Genetics, 131(4):601-613. DOI:10.1007/s00439-011-1104-8

Henn BM, Botigué LR, Gravel S, Wang W, Brisbin A, Byrnes JK, Fadhlaoui-Zid K, Zalloua PA, Moreno-Estrada A, Bertranpetit J, Bustamante CD, Comas D. 2012. Genomic ancestry of North Africans supports back-to-Africa migrations. PLoS Genetics, 8(1). DOI:10.1371/journal.pgen.1002397

Haber M, Youhanna SC, Balanovsky O, Saade S, Martínez-Cruz B, Ghassibe-Sabbagh M, Shasha N, Osman R, el Bayeh H, Koshel S, Zaporozhchenko V, Balanovska E, Soria-Hernanz DF, Platt DE, Zalloua PA. 2012. mtDNA Lineages Reveal Coronary Artery Disease-Associated Structures in the Lebanese Population. Annals of Human Genetics, 76(1):1-8. DOI:10.1111/j.1469-1809.2011.00682.x

Dulik MC, Owings AC, Gaieski JB, Vilar MG, Andre A, Lennie C, Mackenzie MA, Kritsch I, Snowshoe S, Wright R, Martin J, Gibson N, Andrews TD, Schurr TG; Genographic Consortium. 2012. Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations. Proceedings of the National Academy of Sciences of the United States of America, 109(22):8471-8476. DOI:10.1073/pnas.1118760109

Campbell CL, Palamara PF, Dubrovsky M, Botigué LR, Fellous M, Atzmon G, Oddoux C, Pearlman A, Hao L, Henn BM, Burns E, Bustamante CD, Comas D, Friedman E, Pe'er I, Ostrer H. 2012. North African Jewish and non-Jewish populations form distinctive, orthogonal clusters. Proceedings of the National Academy of Sciences of the United States of America, 109(34):13865-13870. DOI:10.1073/pnas.1204840109

Behar DM, Harmant C, Manry J, van Oven M, Haak W, Martinez-Cruz B, Salaberria J, Oyharçabal B, Bauduer F, Comas D, Quintana-Murci L; Genographic Consortium. 2012. The Basque paradigm: Genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-neolithic times. American Journal of Human Genetics, 90(3):486-493. DOI:10.1016/j.ajhg.2012.01.002

Arunkumar G, Soria-Hernanz DF, Kavitha VJ, Arun VS, Syama A, Ashokan KS, Gandhirajan KT, Vijayakumar K, Narayanan M, Jayalakshmi M, Ziegle JS, Royyuru AK, Parida L, Wells RS, Renfrew C, Schurr TG, Smith CT, Platt DE, Pitchappan R; Genographic Consortium. 2012. Population Differentiation of Southern Indian Male Lineages Correlates with Agricultural Expansions Predating the Caste System. PLoS ONE, 7(11). DOI:10.1371/journal.pone.0050269

Sikora M, Laayouni H, Calafell F, Comas D, Bertranpetit J. 2011. A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations. European Journal of Human Genetics, 19(1):84-88. DOI:10.1038/ejhg.2010.141

Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tõnisson N; HYPertension in ESTonia (HYPEST), Shaw-Hawkins S, Caulfield MJ; BRItish Genetics of HyperTension (BRIGHT), Khusnutdinova E, Kožich V, Munroe PB, Laan M. 2011. Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans. Human Mutation, 32(7):806-814. DOI:10.1002/humu.21508

Montano V, Ferri G, Marcari V, Batini C, Anyaele O, Destro-Bisol G, Comas D. 2011. The Bantu expansion revisited: A new analysis of y chromosome variation in Central Western Africa. Molecular Ecology, 20(13):2693-2708. DOI:10.1111/j.1365-294X.2011.05130.x

Mendizabal I, Valente C, Gusmão A, Alves C, Gomes V, Goios A, Parson W, Calafell F, Alvarez L, Amorim A, Gusmão L, Comas D, Prata MJ. 2011. Reconstructing the Indian origin and dispersal of the european Roma: A maternal genetic perspective. PLoS ONE, 6(1):1-10. DOI:10.1371/journal.pone.0015988

Martínez-Cruz B, Vitalis R, Ségurel L, Austerlitz F, Georges M, Théry S, Quintana-Murci L, Hegay T, Aldashev A, Nasyrova F, Heyer E. 2011. In the heartland of Eurasia: The multilocus genetic landscape of Central Asian populations. European Journal of Human Genetics, 19(2):216-223. DOI:10.1038/ejhg.2010.153

Laayouni H, Montanucci L, Sikora M, Melé M, Dall'Olio GM, Lorente-Galdos B, McGee KM, Graffelman J, Awadalla P, Bosch E, Comas D, Navarro A, Calafell F, Casals F, Bertranpetit J. 2011. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS ONE, 6(3). DOI:10.1371/journal.pone.0017913

Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, Kidd JM, Rodríguez-Botigué L, Ramachandran S, Hon L, Brisbin A, Lin AA, Underhill PA, Comas D, Kidd KK, Norman PJ, Parham P, Bustamante CD, Mountain JL, Feldman MW. 2011. Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proceedings of the National Academy of Sciences of the United States of America, 108(13):5154-5162. DOI:10.1073/pnas.1017511108

Haber M, Platt DE, Badro DA, Xue Y, El-Sibai M, Bonab MA, Youhanna SC, Saade S, Soria-Hernanz DF, Royyuru A, Wells RS, Tyler-Smith C, Zalloua PA; Genographic Consortium. 2011. Influences of history, geography, and religion on genetic structure: The Maronites in Lebanon. European Journal of Human Genetics, 19(3):334-340. DOI:10.1038/ejhg.2010.177

Gaieski JB, Owings AC, Vilar MG, Dulik MC, Gaieski DF, Gittelman RM, Lindo J, Gau L, Schurr TG; Genographic Consortium. 2011. Genetic ancestry and indigenous heritage in a Native American Descendant Community in Bermuda. American Journal of Physical Anthropology, 146(3):392-405. DOI:10.1002/ajpa.21588

Fadhlaoui-Zid K, Rodríguez-Botigué L, Naoui N, Benammar-Elgaaied A, Calafell F, Comas D. 2011. Mitochondrial DNA structure in North Africa reveals a genetic discontinuity in the Nile Valley. American Journal of Physical Anthropology, 145(1):107-117. DOI:10.1002/ajpa.21472

Fadhlaoui-Zid K, Martinez-Cruz B, Khodjet-El-Khil H, Mendizabal I, Benammar-Elgaaied A, Comas D. 2011. Genetic structure of Tunisian ethnic groups revealed by paternal lineages. American Journal of Physical Anthropology, 146(2):271-280. DOI:10.1002/ajpa.21581

Batini C, Ferri G, Destro-Bisol G, Brisighelli F, Luiselli D, Sánchez-Diz P, Rocha J, Simonson T, Brehm A, Montano V, Elwali NE, Spedini G, D'Amato ME, Myres N, Ebbesen P, Comas D, Capelli C. 2011. Signatures of the preagricultural peopling processes in sub-saharan africa as revealed by the phylogeography of early y chromosome lineages. Molecular Biology and Evolution, 28(9):2603-2613. DOI:10.1093/molbev/msr089

Batini C, Lopes J, Behar DM, Calafell F, Jorde LB, van der Veen L, Quintana-Murci L, Spedini G, Destro-Bisol G, Comas D. 2011. Insights into the demographic history of African pygmies from complete mitochondrial genomes. Molecular Biology and Evolution, 28(2):1099-1110. DOI:10.1093/molbev/msq294