Browsing by Author "Bertranpetit, Jaume, 1952-"

Sort by: Order: Results:

  • 1000 Genomes Selection Browser 1.0: A genome browser dedicated to signatures of natural selection in modern humans
    Pybus Oliveras, Marc, 1985-; Dall'Olio, Giovanni Marco, 1983-; Luisi, Pierre, 1985-; Uzkudun, Manu; Carreño Torres, Angel; Pavlidis, Pavlos; Laayouni, Hafid, 1968-; Bertranpetit, Jaume, 1952-; Engelken, Johannes (Oxford University Press, 2014)
    Searching for Darwinian selection in natural populations has been the focus of a multitude of studies over the last decades. Here we present the 1000 Genomes Selection Browser 1.0 (http://hsb.upf.edu) as a resource for ...
  • A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)
    Kuderna, Lukas F.K.; Laayouni, Hafid, 1968-; García Pérez, Raquel, 1989-; Povolotskaya, Inna, 1986-; Serres Armero, Aitor, 1992-; Gómez Garrido, Jèssica; Alioto, Tyler; Navarro i Cuartiellas, Arcadi, 1969-; Bertranpetit, Jaume, 1952-; Marquès i Bonet, Tomàs, 1975- (Oxford University Press, 2017)
    The chimpanzee is arguably the most important species for the study of human origins. A key resource for these studies is a high-quality reference genome assembly; however, as with most mammalian genomes, the current ...
  • A Comprehensive screening of X-linked and miRNA-driven signatures of positive selection and the role of cis-regulatory elements in the human genome
    Villegas Mirón, Pablo, 1991- (2021-10-22)
    The evolutionary history of the human genome has been shaped by the selection of multiple elements in response to different environmental pressures. The analysis of regulatory adaptations and the particularities of sexual ...
  • A fully integrated machine learning scan of selection in the chimpanzee genome
    Nye, Jessica, 1986-; Mondal, Mayukh, 1989-; Bertranpetit, Jaume, 1952-; Laayouni, Hafid, 1968- (Oxford University Press, 2020)
    After diverging, each chimpanzee subspecies has been the target of unique selective pressures. Here, we employ a machine learning approach to classify regions as under positive selection or neutrality genome-wide. The ...
  • 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, ...
  • A system-level, molecular evolutionary analysis of mammalian phototransduction
    Invergo, Brandon M., 1982-; Montanucci, Ludovica, 1978-; Laayouni, Hafid, 1968-; Bertranpetit, Jaume, 1952- (BioMed Central, 2013)
    Visual perception is initiated in the photoreceptor cells of the retina via the phototransduction system./nThis system has shown marked evolution during mammalian divergence in such complex attributes as activation time ...
  • A system-level, molecular evolutionary analysis of mammalian phototransduction
    Invergo, Brandon M., 1982- (Universitat Pompeu Fabra, 2013-11-22)
    Phototransduction is the biochemical process by which a light stimulus is converted to a neuronal signal. The process functions through complex interactions between many proteins, which work in concert to tightly control ...
  • A targeted association study of immunity genes and networks suggests novel associations with placental malaria infection
    Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Netea, Mihai G; Casals López, Ferran; Bertranpetit, Jaume, 1952- (Public Library of Science (PLoS), 2011)
    A large proportion of the death toll associated with malaria is a consequence of malaria infection during pregnancy, causing up to 200,000 infant deaths annually. We previously published the first extensive genetic association ...
  • A variant in the gene FUT9 is associated with susceptibility to placental malaria infection
    Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Mandomando, Inacio; Alonso, Pedro L.; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Oxford University Press, 2009)
    Malaria in pregnancy forms a substantial part of the worldwide burden of malaria, with an estimated annual death toll of up to 200,000 infants, as well as increased maternal morbidity and mortality. Studies of genetic ...
  • 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 history of the chimpanzee subspecies in the genomic era
    Nye, Jessica, 1986- (Universitat Pompeu Fabra, 2018-12-17)
    Although universal and unavoidable, aging does not occur in a uniform way. In this dissertation, we assessed the effects of early life exposure to pro-inflammatory risk factors (air pollution and obesity) on mitochondrial ...
  • Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population
    Walsh Capdevila, Sandra, 1991-; Izquierdo Serra, Mercè; Acosta, Sandra; Edo, Albert; Lloret, María; Moret, Roser; Bosch Fusté, Elena; Oliva Miguel, Baldomero; Bertranpetit, Jaume, 1952-; Fernández-Fernández, José Manuel, 1967- (Nature Research, 2020)
    TRPP3 (also called PKD2L1) is a nonselective, cation-permeable channel activated by multiple stimuli, including extracellular pH changes. TRPP3 had been considered a candidate for sour sensor in humans, due to its high ...
  • Agta hunter–gatherer oral microbiomes are shaped by contact network structure
    Musciotto, Federico; Dobón Berenguer, Begoña, 1987-; Greenacre, Michael; Mira, Alex; Chaudhary, Nikhil; Salali, Gul Deniz; Gerbault, Pascale; Schlaepfer, Rodolph; Astete, Leonora H.; Ngales, Marilyn; Gomez-Gardenes, Jesus; Latora, Vito; Battiston, Federico; Bertranpetit, Jaume, 1952-; Vinicius, Lucio; Migliano, Andrea Bamberg (Cambridge University Press, 2023)
    Here we investigate the effects of extensive sociality and mobility on the oral microbiome of 138 Agta hunter–gatherers from the Philippines. Our comparisons of microbiome composition showed that the Agta are more similar ...
  • An integrative evolution theory of histo-blood group ABO and related genes
    Yamamoto, Fumiichiro; Cid, Emili; Yamamoto, Miyako; Saitou, Naruya; Bertranpetit, Jaume, 1952-; Blancher, Antoine (Nature Research, 2014)
    The ABO system is one of the most important blood group systems in transfusion/transplantation medicine. However, the evolutionary significance of the ABO gene and its polymorphism remained unknown. We took an integrative ...
  • Anàlisi de la variació genètica de les regions CFTR i GBA en poblacions humanes de tot el món
    Mateu Morante, Eva (Universitat Pompeu Fabra, 2001-07-06)
    Aquest treball és una contribució als estudis de diversitat del genoma humà i pretén estudiar la variació genètica existent a nivell mundial en dos gens, causants de malaltia, el gen CFTR i el gen GBA, en cromosomes ...
  • Applications of network theory to human population genetics : from pathways to genotype networks
    Dall'Olio, Giovanni Marco, 1983- (Universitat Pompeu Fabra, 2013-10-28)
    In this thesis we developed two approaches to study positive selection and genetic adaptation in the human genome. Both approaches are based on applications of network theory. In the first approach, we studied how the ...
  • Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania
    Mondal, Mayukh, 1989-; Bertranpetit, Jaume, 1952-; Lao Grueso, Oscar, 1976- (Nature Research, 2019)
    Since anatomically modern humans dispersed Out of Africa, the evolutionary history of Eurasian populations has been marked by introgressions from presently extinct hominins. Some of these introgressions have been identified ...
  • Chromosome X-wide analysis of positive selection in human populations: common and private signals of selection and its impact on inactivated genes and enhancers
    Villegas Mirón, Pablo; Acosta, Sandra; Nye, Jessica, 1986-; Bertranpetit, Jaume, 1952-; Laayouni, Hafid, 1968- (Frontiers, 2021)
    The ability of detecting adaptive (positive) selection in the genome has opened the possibility of understanding the genetic basis of population-specific adaptations genome-wide. Here, we present the analysis of recent ...
  • Comparative analysis of cancer genes in the human and chimpanzee genomes
    Puente, Xosé S.; Velasco, Gloria; Gutiérrez Fernández, Ana; Bertranpetit, Jaume, 1952-; King, Mary Claire; López Otín, Carlos (BioMed Central, 2006)
    Background: Cancer is a major medical problem in modern societies. However, the incidence of this disease in non-human primates is very low. To study whether genetic differences between human and chimpanzee could contribute ...
  • A comprehensive model of the phototransduction cascade in mouse rod cells
    Invergo, Brandon M., 1982-; Dell'Orco, Daniele; Montanucci, Ludovica, 1978-; Koch, Karl-Wilhelm; Bertranpetit, Jaume, 1952- (Royal Society of Chemistry, 2014)
    Vertebrate visual phototransduction is perhaps the most well-studied G-protein signaling pathway. A wealth of available biochemical and electrophysiological data has resulted in a rich history of mathematical modeling of ...