Browsing by Author "Bertranpetit, Jaume, 1952-"

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  • 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 ...
  • Kuderna, Lukas F.K.; Laayouni, Hafid, 1968-; García Pérez, Raquel; Povolotskaya, Inna, 1986-; Serres Armero, Aitor; 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 ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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; The 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Jofré, Paula; Das, Payel; Bertranpetit, Jaume, 1952-; Foley, Robert (Oxford University Press, 2017)
    Using 17 chemical elements as a proxy for stellar DNA, we present a full phylogenetic study of stars in the solar neighbourhood. This entails applying a clustering technique that is widely used in molecular biology to ...
  • 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 ...
  • Pybus Oliveras, Marc, 1985- (Universitat Pompeu Fabra, 2015-09-28)
    Detecting positive selection in genomic regions is a recurrent topic in human population genetics studies. Over the years, many positive selection tests have been implemented to highlight specific genomic patterns left by ...
  • Dall'Olio, Giovanni Marco, 1983-; Laayouni, Hafid, 1968-; Luisi, Pierre, 1985-; Sikora, Martin, 1976-; Montanucci, Ludovica, 1978-; Bertranpetit, Jaume, 1952- (BioMed Central, 2012)
    Asparagine N-Glycosylation is one of the most important forms of protein post-translational modification in eukaryotes. This metabolic pathway can be subdivided into two parts: an upstream sub-pathway required for achieving ...
  • Bosch Fusté, Elena (Universitat Pompeu Fabra, 2000-02-18)
    S'ha estudiat la variabilitat genètica de les poblacions del nord d'Àfrica a partir de l'anàlisi de diverses regions genòmiques per tal d'entendre les poblacions analitzades d'una banda, i comprendre la dinàmica del genoma ...