Browsing by Author "Comas, David, 1969-"

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  • A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
    Aróstegui Gorospe, Juan Ignacio; Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murias, Sara; Alcobendas, Rosa; González-Roca, Eva; Dreschsel, Oliver; Ruíz Ortiz, Estíbaliz; Puig, Anna; Comas, David, 1969-; Ossowski, Stephan; Yagüe, Jordi L.; Estivill, Xavier, 1955-; Merino, Rosa (BioMed Central, 2015)
    We identified a consanguineous Moroccan family with three affected siblings diagnosed with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. They all suffered from an early-onset (2-4 years-old) chronic ...
  • A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations
    Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Calafell i Majó, Francesc; Comas, David, 1969-; Bertranpetit, Jaume, 1952- (Nature Publishing Group, 2011)
    Studies of large sets of SNP data have proven to be a powerful tool in the analysis of the genetic structure of human populations. In this work, we analyze genotyping data for 2,841 SNPs in 12 Sub-Saharan African populations, ...
  • Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity
    Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A. H.; McAllister, Peter; Williams, Lesley; Manfred, Kayser; Mitchell, R. John; Genographic Consortium; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Haber, Marc, 1980-; Martínez Cruz, Begoña; Melé Messeguer, Marta, 1982- (Nature Publishing Group, 2017)
    Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 ...
  • Adaptive evolution of loci covarying with the human African Pygmy phenotype
    Mendizábal Eceizabarrena, Isabel, 1981-; Marigorta, Urko M.; Lao Grueso, Oscar, 1976-; Comas, David, 1969- (Springer, 2012)
    African Pygmies are hunter-gatherer populations from the equatorial rainforest that present the lowest height averages among humans. The biological basis and the putative adaptive role of the short stature of Pygmy populations ...
  • Admixture has shaped romani genetic diversity in clinically relevant variants
    Font-Porterias, Neus; Giménez, Aaron; Carballo Mesa, Annabel; Calafell i Majó, Francesc; Comas, David, 1969- (Frontiers, 2021)
    Genetic patterns of inter-population variation are a result of different demographic and adaptive histories, which gradually shape the frequency distribution of the variants. However, the study of clinically relevant ...
  • Afghanistan's ethnic groups share a y-chromosomal heritage structured by historical events
    Haber, Marc, 1980-; Platt, Daniel E.; Ashrafian Bonab, Maziar; Youhanna, Sonia; Soria Hernanz, David F; Martínez Cruz, Begoña; Douaihy, Bouchra; Ghassibe-Sabbaghm, Michella; Rafatpanah, Hoshang; Ghanbari, Mohsen; Whale, John; Balanovsky, Oleg; Wells, R. Spencer; Comas, David, 1969-; Tyler-Smith, Chris; Zalloua, Pierre A.; Genographic Consortium (Public Library of Science (PLoS), 2012)
    Afghanistan has held a strategic position throughout history. It has been inhabited since the Paleolithic and later became a crossroad for expanding civilizations and empires. Afghanistan's location, history, and diverse ...
  • Anàlisi de la diversitat del genoma mitocondrial en poblacions humanes
    Plaza, Stéphanie (Universitat Pompeu Fabra, 2004-04-02)
    El trabajo realizado trata de estudiar la diversidad del genoma mitocondrial humano en poblaciones humanas de diferentes áreas geográficas que habían sido hasta ahora poco o nada estudiadas. Los grupos de poblaciones humanos ...
  • Ancient and modern mitogenomes from Central Argentina: new insights into population continuity, temporal depth and migration in South America
    García, Angelina; Nores, Rodrigo; Motti, Josefina M. B.; Pauro, Maia; Luisi, Pierre, 1985-; Bravi, Claudio M.; Fabra, Mariana; Gosling, Anna; Kardailsky, Olga; Boocock, James; Solé Morata, Neus, 1988-; Matisoo Smith, Elizabeth; Comas, David, 1969-; Demarchi, Darío A. (Oxford University Press, 2021)
    The inverted triangle shape of South America places Argentina territory as a geographical crossroads between the two principal peopling streams that followed either the Pacific or the Atlantic coasts, which could have then ...
  • Ancient human genomes suggest three ancestral populations for present-day Europeans
    Lazaridis, Iosif; Krause, Johannes; Comas, David, 1969- (Nature Research, 2014)
    We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show ...
  • Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
    Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio (Nature Research, 2019)
    Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We ...
  • Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease
    Franco-Jarava, Clara; Comas, David, 1969-; Orren, Ann; Hernández-González, M.; Colobran, Roger (Wiley, 2017)
    Complement C5 deficiency (C5D) is a rare primary immunodeficiency associated with recurrent infections, particularly meningitis, by Neisseria species. To date, studies to elucidate the molecular basis of hereditary C5D ...
  • De Mendel al mapa del genoma
    Comas, David, 1969- (Quark, 2001-01-11)
  • Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD
    Bosch Fusté, Elena; Laayouni, Hafid, 1968-; Morcillo Suárez, Carlos, 1969-; Casals López, Ferran; Moreno Estrada, Andrés; Ferrer Admetlla, Anna; Gardner, Michelle; Rosa, Araceli; Comas, David, 1969-; Graffelman, Jan; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952- (BioMed Central, 2009)
    Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium ...
  • Deep genetic affinity between coastal Pacific and Amazonian natives evidenced by Australasian ancestry
    Castro e Silva, Marcos Araújo; Ferraz, Tiago; Bortolini, Maria Cátira; Comas, David, 1969-; Hünemeier, Tábita (National Academy of Sciences, 2021)
    Different models have been proposed to elucidate the origins of the founding populations of America, along with the number of migratory waves and routes used by these first explorers. Settlements, both along the Pacific ...
  • Demographic history of the genus Pan inferred from whole mitochondrial genome reconstructions
    Lobón, Irene; Tucci, Serena; de Manuel, Marc; Ghirotto, Silvia; Benazzo, Andrea; Prado Martínez, Javier, 1987-; Lorente-Galdós, Belén, 1981-; Nam, Kiwoong; Dabad, Marc; Hernández Rodríguez, Jéssica, 1983-; Comas, David, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Schierup, Mikkel H.; Andrés Morán, Aida, 1976-; Barbujani, Guido; Hvilsom, Christina; Marquès i Bonet, Tomàs, 1975- (Oxford University Press, 2016)
    The genus Pan is the closest genus to our own and it includes two species, Pan paniscus (bonobos) and Pan troglodytes (chimpanzees). The later is constituted by four subspecies, all highly endangered. The study of the Pan ...
  • Demographic insights of human north African populations using genetic data
    Rodríguez Botigué, Laura, 1984- (Universitat Pompeu Fabra, 2012-11-16)
    The history of North Africa is extremely complex, and it has been difficult to assess from genetic and archeological data whether early populations were replaced by later migrations or if there has been continuous settlement ...
  • Demography and genetic adaptation: examples from human populations
    Mendizábal Eceizabarrena, Isabel, 1981- (Universitat Pompeu Fabra, 2012-07-27)
    The human colonization of worldwide landmasses occurred through complex patterns of dispersal and admixture. At the same time, the survival in the different areas of the world depended on the adaptation to new habitats ...
  • Distribution of local ancestry and evidence of adaptation in admixed populations
    Secolin, Rodrigo; Mas Sandoval, Àlex, 1989-; Arauna, Lara R; Torres, Fábio R.; de Araujo, Tânia K.; Santos, Marilza L.; Rocha, Cristiane S.; Carvalho, Benilton S.; Cendes, Fernando; Lopes-Cendes, Iscia; Comas, David, 1969- (Nature Research, 2019)
    Admixed American populations have different global proportions of European, Sub-Saharan African, and Native-American ancestry. However, individuals who display the same global ancestry could exhibit remarkable differences ...
  • Ethnicity, linguistics, and genetic diversity in native Mexicans : reconstructing the population history of Mesoamerica
    Sandoval Mendoza, Karla (Universitat Pompeu Fabra, 2010-04-25)
    Mesoamerica is one of the main centers of New World civilization. It represents today a large geographical area exhibiting one of the highest genetic, cultural, and archeological diversity in the Americas. Moreover, its ...
  • European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin
    Font-Porterias, Neus; Arauna, Lara R; Poveda, Alaitz; Bianco, Erica; Rebato, Esther; Prata, Maria Joao; Calafell i Majó, Francesc; Comas, David, 1969- (Public Library of Science (PLoS), 2019)
    The Roma population is the largest transnational ethnic minority in Europe, characterized by a linguistic, cultural and historical heterogeneity. Comparative linguistics and genetic studies have placed the origin of European ...