Welcome to the UPF Digital Repository

Browsing by Author "Navarro i Cuartiellas, Arcadi, 1969-"

Browsing by Author "Navarro i Cuartiellas, Arcadi, 1969-"

Sort by: Order: Results:

  • Great ape genetic diversity and population history
    Prado Martínez, Javier, 1987-; Lorente-Galdós, Belén, 1981-; Santpere Baró, Gabriel, 1981-; Casals López, Ferran; Laayouni, Hafid, 1968-; Hernández Rodríguez, Jéssica, 1983-; Hernando Herráez, Irene, 1985-; Pybus Oliveras, Marc, 1985-; Petit, Natalia; Fernández Callejo, Marcos; Dabad, Marc; Carvalho, Tiago Loureiro de, 1987-; Melé Messeguer, Marta, 1982-; Comas, David, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Bertranpetit, Jaume, 1952-; Marquès i Bonet, Tomàs, 1975- (Nature Publishing Group, 2013)
    Most great ape genetic variation remains uncharacterized1, 2; however, its study is critical for understanding population history3, 4, 5, 6, recombination7, selection8 and susceptibility to disease9, 10. Here we sequence ...
  • HeT-A_pi1, a piRNA target sequence in the drosophila telomeric retrotransposon HeT-A, is extremely conserved across copies and species
    Petit, Natalia; Piñeyro, David; López-Panades, Elisenda; Casacuberta Suñer, Elena, 1972-; Navarro i Cuartiellas, Arcadi, 1969- (Public Library of Science (PLoS), 2012)
    The maintenance of the telomeres in Drosophila species depends on the transposition of the non-LTR retrotransposons HeT-A, TAHRE and TART. HeT-A and TART elements have been found in all studied species of Drosophila ...
  • High trans-ethnic replicability of GWAS results implies common causal variants
    Marigorta, Urko M.; Navarro i Cuartiellas, Arcadi, 1969- (Public Library of Science (PLoS), 2013)
    Genome-wide association studies (GWAS) have detected many disease associations. However, the reported variants tend to explain small fractions of risk, and there are doubts about issues such as the portability of findings ...
  • How to analyze many contingency tables simultaneously in genetic association studies
    Dickhaus, Thorsten; Straßburger, Klaus; Schunk, Daniel; Morcillo Suárez, Carlos, 1969-; Illig, Thomas; Navarro i Cuartiellas, Arcadi, 1969- (De Gruyter, 2012)
    We study exact tests for (2 x 2) and (2 x 3) contingency tables, in particular exact chi-squared tests and exact tests of Fisher type. In practice, these tests are typically carried out without randomization, leading to ...
  • Human herpesvirus diversity is altered in HLA class I binding peptides
    Palmer, William H.; Telford, Marco, 1984-; Navarro i Cuartiellas, Arcadi, 1969-; Santpere Baró, Gabriel, 1981-; Norman, Paul J. (National Academy of Sciences, 2022)
    Herpesviruses are ubiquitous, genetically diverse DNA viruses, with long-term presence in humans associated with infrequent but significant pathology. Human leukocyte antigen (HLA) class I presents intracellularly derived ...
  • Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
    Alcina, Antonio; Petit, Natalia; Navarro i Cuartiellas, Arcadi, 1969-; Matesanz, Fuencisla (BMJ Publishing Group, 2013)
    BACKGROUND AND AIM: Several studies have highlighted the association of the 12q13.3-12q14.1 region with coeliac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS); however, the causal variants ...
  • International federation of genomic medicine databases using GA4GH standards
    Thorogood, Adrian; Rehm, Heidi L.; Goodhand, Peter; Page, Angela J. H.; Joly, Yann; Baudis, Michael; Rambla de Argila, Jordi; Navarro i Cuartiellas, Arcadi, 1969-; Nyronen, Tommi H.; Linden, Mikael; Dove, Edward S.; Fiume, Marc; Brudno, Michael; Cline, Melissa S.; Bimey, Ewan (Elsevier, 2021)
    We promote a shared vision and guide for how and when to federate genomic and health-related data sharing, enabling connections and insights across independent, secure databases. The GA4GH encourages a federated approach ...
  • Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario
    Hartasánchez Frenk, Diego Andrés, 1982-; Vallés-Codina, Oriol; Brasó-Vives, Marina, 1990-; Navarro i Cuartiellas, Arcadi, 1969- (Genetics Society of America, 2014)
    Interlocus gene conversion is a major evolutionary force that drives the concerted evolution of duplicated genomic regions. Theoretical models successfully have addressed the effects of interlocus gene conversion and the ...
  • Interrogating eleven fast-evolving genes for signatures of recent positive selection in worldwide human populations
    Moreno Estrada, Andrés; Bosch Fusté, Elena; Stoneking, Mark; Bertranpetit, Jaume, 1952-; Calafell i Majó, Francesc; Navarro i Cuartiellas, Arcadi, 1969-; Casals López, Ferran; Tang, Kun; Marquès i Bonet, Tomàs, 1975-; Sikora, Martin, 1976- (Oxford University Press, 2009)
    Different signatures of natural selection persist over varying time scales in our genome, revealing possible episodes of adaptative evolution during human history. Here, we identify genes showing signatures of ancestral ...
  • Inversions and genomic differentiation after secondary contact: when drift contributes to maintenance, not loss, of differentiation
    Rafajlović, Marina; Rambla de Argila, Jordi; Feder, Jeffrey L.; Navarro i Cuartiellas, Arcadi, 1969-; Faria, Rui (Wiley, 2021)
    Due to their effects on reducing recombination, chromosomal inversions may play an important role in speciation by establishing and/or maintaining linked blocks of genes causing reproductive isolation (RI) between populations. ...
  • Leveraging European infrastructures to access 1 million human genomes by 2022
    Saunders, Gary; Beltran, Sergi; Gut, Ivo Glynne; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi; Scollen, Serena (Nature Research, 2019)
    Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the ...
  • Look-alike humans identified by facial recognition algorithms show genetic similarities
    Joshi, Ricky S.; Rigau, Maria; García-Prieto, Carlos A.; Castro de Moura, Manuel; Piñeyro, David; Moran, Sebastian; Davalos, Veronica; Carrión, Pablo; Ferrando-Bernal, Manuel, 1990-; Olalde Marquínez, Íñigo, 1987-; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Fernández-Tena, Carles; Aspandi, Decky; Sukno, Federico Mateo; Binefa i Valls, Xavier; Valencia, Alfonso; Esteller, Manel (Elsevier, 2022)
    The human face is one of the most visible features of our unique identity as individuals. Interestingly, monozygotic twins share almost identical facial traits and the same DNA sequence but could exhibit differences in ...
  • Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease
    Spataro, Nino, 1984-; Calafell i Majó, Francesc; Cervera-Carles, Laura; Casals López, Ferran; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Lleó, Alberto; Navarro i Cuartiellas, Arcadi, 1969-; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Oxford University Press, 2015)
    Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association ...
  • Natural selection in the great apes
    Cagan, Alexander; Theunert, Christoph; Laayouni, Hafid, 1968-; Santpere Baró, Gabriel, 1981-; Pybus Oliveras, Marc, 1985-; Casals López, Ferran; Prüfer, Kay; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975-; Bertranpetit, Jaume, 1952-; Andrés Morán, Aida, 1976- (Oxford University Press, 2016)
    Natural selection is crucial for the adaptation of populations to their environments. Here, we present the first global study of natural selection in the Hominidae (humans and great apes) based on genome-wide information ...
  • New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32
    Serrano, Carmen; Corral Juan, Marc; Stevanin, Giovanni; San Nicolás, Hector; Roig, Carles; Corral, Jordi; Campos, Berta; Jorge, Laura de; Morcillo Suárez, Carlos, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Forlani, Sylvie; Durr, Alexandra; Kulisevsky, Jaime J.; Brice, Alexis; Sánchez, Ivelisse; Volpini, Victor; Matilla Dueñas, Antoni (American Institute of Physics (AIP), 2013)
    IMPORTANCE: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE: To clinically and genetically ...
  • On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees
    Navarro i Cuartiellas, Arcadi, 1969- (BioMed Central, 2007)
  • Pan-cancer analysis of whole genomes
    ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German, 1990-; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Sušak, Hana, 1985-; Rabionet, Raquel; Stobbe, Miranda D.; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Gut, Ivo Glynne; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Whalley, Justin P.; Heath, Simon; Prasad, Aparna; Heredia Genestar, José María, 1985-; Sabarinathan, Radhakrishnan; Pich, Oriol; Gonzalez-Perez, Abel; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Mularoni, Loris; Deu-Pons, Jordi; Muiños, Ferran; Muyas Remolar, Francesc, 1992- (Nature Research, 2020)
    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale . Here we report the integrative analysis of 2,658 ...
  • Patterns and rates of intron divergence between humans and chimpanzees
    Gazave, Elodie; Marquès i Bonet, Tomàs, 1975-; Fernando, Olga; Charlesworth, Brian; Navarro i Cuartiellas, Arcadi, 1969- (BioMed Central, 2007)
    We present the first analysis of human-chimpanzee intron divergence, in which differences in the number of substitutions per intronic site (Ki) can be interpreted as the footprint of different intensities and directions ...
  • Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β
    Bustamante, Marta F.; Morcillo Suárez, Carlos, 1969-; Leyva, Laura; Fernández, Oscar; Farré, Xavier; Navarro i Cuartiellas, Arcadi, 1969-; Comabella López, Manuel (Wolters Kluwer (LWW), 2015)
    OBJECTIVES: We aimed to investigate the association between polymorphisms located in type I interferon (IFN)-induced genes, genes belonging to the toll-like receptor (TLR) pathway, and genes encoding neurotransmitter ...
  • Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis
    Muntané, Gerard; Vázquez-Bourgon, Javier; Sada, Ester; Martorell, Lourdes; Papiol, Sergi; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Crespo-Facorro, Benedicto; Vilella, Elisabet (Cambridge University Press, 2023)
    Background: Individuals with a first episode of psychosis (FEP) show rapid weight gain during the first months of treatment, which is associated with a reduction in general physical health. Although genetics is assumed to ...