Benvinguts al Repositori Digital de la UPF

Visualitza Articles (Departament de Ciències Experimentals i de la Salut) per matèria "Genètica humana"

Visualitza Articles (Departament de Ciències Experimentals i de la Salut) per matèria "Genètica humana"

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  • Guigó Serra, Roderic; Agarwal, Pankaj; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Fickett, James W. (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    One of the first useful products from the human genome will be a set of predicted genes. Besides its intrinsic scientific interest, the accuracy and completeness of this data set is of considerable importance for human ...
  • Bekpen, Cemalettin; Marquès i Bonet, Tomàs, 1975-; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia; Howard, Jonathan C.; Eichler, Evan E. (Public Library of Science (PLoS), 2009)
    Immunity-related GTPases (IRG) play an important role in defense against intracellular pathogens. One member of this gene family in humans, IRGM, has been recently implicated as a risk factor for Crohn's disease. We analyzed ...
  • Queralt Rosinach, Núria; Piñero González, Janet, 1977-; Bravo Serrano, Àlex, 1984-; Sanz, Ferran; Furlong, Laura I., 1971- (Oxford University Press , 2016)
    MOTIVATION: DisGeNET-RDF makes available knowledge on the genetic basis of human diseases in the Semantic Web. Gene-disease associations (GDAs) and their provenance metadata are published as human-readable and machine-processable ...
  • Piñero González, Janet, 1977-; Queralt Rosinach, Núria; Bravo Serrano, Àlex, 1984-; Déu Pons, Jordi; Bauer-Mehren, Anna; Baron, Martin; Sanz, Ferran; Furlong, Laura I., 1971- (Oxford University Press, 2015)
    DisGeNET is a comprehensive discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases. DisGeNET contains over 380,000 associations between >16,000 genes and 13,000 ...
  • Thomson, Timothy M.; Lozano, Juan José; Loukili, Noureddine; Carrió, Roberto; Serras Rigalt, Florenci; Cormand, Bru; Valeri, Marta; Díaz, Víctor M.; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Merino, Jesús; Macaya, Alfons; Corominas Guiu, Montserrat; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    UEV proteins are enzymatically inactive variants of the E2 ubiquitin-conjugating enzymes that regulate noncanonical elongation of ubiquitin chains. In Saccharomyces cerevisiae, UEV is part of the RAD6-mediated error-free ...
  • Mendizábal Eceizabarrena, Isabel, 1981-; Sandoval Mendoza, Karla; Berniell Lee, Gemma; Calafell i Majó, Francesc; Salas, Antonio; Martínez Fuentes, Antonio; Comas, David, 1969- (BioMed Central, 2008)
    Background: Before the arrival of Europeans to Cuba, the island was inhabited by two Native American groups, the Tainos and the Ciboneys. Most of the present archaeological, linguistic and ancient DNA evidence indicates a ...
  • Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marquès i Bonet, Tomàs, 1975-; Saijadian, Saba; Graves, Tina A.; Hormozdiari, Fereydoun; Navarro i Cuartiellas, Arcadi, 1969-; Malig, Maika; Baker, Carl; Lee, Choli; Turner, Emily H.; Chen, Lin; Kidd, Jeffrey M.; Archidiacono, Nicoletta; Shendure, Jay; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2011)
    Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched ...
  • Mularoni, Loris; Guigó Serra, Roderic; Albà Soler, Mar (BioMed Central, 2006)
    Background: Amino acid tandem repeats are found in nearly one-fifth of human proteins. Abnormal expansion of these regions is associated with several human disorders. To gain further insight into the mutational mechanisms ...
  • Melé Messeguer, Marta, 1982-; Javed, Asif; Pybus Oliveras, Marc, 1985-; Calafell i Majó, Francesc; Parida, Laxmi; Bertranpetit, Jaume, 1952-; The Genographic Consortium (Public Library of Science (PLoS), 2010)
    Recombination is one of the main forces shaping genome diversity, but the information it generates is often overlooked. A recombination event creates a junction between two parental sequences that may be transmitted to the ...
  • De, Subhajyoti; López Bigas, Núria; Teichmann, Sarah A. (BioMed Central, 2008)
    Background: Different regions in a genome evolve at different rates depending on structural and functional constraints. Some genomic regions are highly conserved during metazoan evolution, while other regions may evolve ...
  • Mendizábal Eceizabarrena, Isabel, 1981-; Marigorta, Urko M.; Comas, David, 1969-; Kayser, Manfred (Elsevier, 2012)
    The Romani, the largest European minority group with approximately 11 million people, constitute a mosaic of languages, religions, and lifestyles while sharing a distinct social heritage. Linguistic and genetic studies ...
  • Girirajan, Santhosh; Chen, Lin; Graves, Tina A.; Marquès i Bonet, Tomàs, 1975-; Ventura, Mario; Fronick, Catrina; Fulton, Lucinda; Rocchi, Mariano; Fulton, Robert S.; Wilson, Richard K.; Mardis, Elaine R.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2009)
    The gibbon genome exhibits extensive karyotypic diversity with an increased rate of chromosomal rearrangements during evolution. In an effort to understand the mechanistic origin and implications of these rearrangement ...
  • Washietl, Stefan; Pedersen, Jackob S.; Korbel, Jan O.; Stocsits, Claudia; Gruber, Andreas R.; Hackermüller, Jörg; Hertel, Jana; Lindemeyer, Manja; Reiche, Kristin; Tanzer, Andrea; Ucla, Catherine; Wyss, Carine; Antonarakis, Stylianos E.; Denoeud, France; Lagarde, Julien; Drenkow, Jorg; Kapranov, Philipp; Gingeras, Thomas R.; Guigó Serra, Roderic; Snyder, Michael; Gerstein, Mark B.; Reymond, Alexandre; Hofacker, Ivo L.; Stadler, Peter F. (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    Functional RNA structures play an important role both in the context of noncoding RNA transcripts as well as regulatory elements in mRNAs. Here we present a computational study to detect functional RNA structures within ...
  • Behar, Doron M.; Harmant, Christine; Manry, Jeremy; van Oven, Mannis; Haak, Wolfgang; Martínez Cruz, Begoña; Salaberria, Jasone; Oyharçabal, Bernard; Bauduer, Frédéric; Comas, David, 1969-; Quintana Murci, Lluis; Genographic Consortium (Elsevier, 2012)
    Different lines of evidence point to the resettlement of much of western and central Europe by populations from the Franco-Cantabrian region during the Late Glacial and Postglacial periods. In this context, the study of ...
  • Rozowsky, Joel S.; Newburger, Daniel; Sayward, Fred; Wu, Jiaqian; Jordan, Greg; Korbel, Jan O.; Nagalakshmi, Ugrappa; Yang, Jing; Zheng, Deyou; Guigó Serra, Roderic; Gingeras, Thomas R.; Weissman, Sherman; Miller, Perry; Snyder, Michael; Gerstein, Mark B. (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    For the ∼1% of the human genome in the ENCODE regions, only about half of the transcriptionally active regions (TARs) identified with tiling microarrays correspond to annotated exons. Here we categorize this large amount ...
  • Aguado, Cristina; Gayà Vidal, Magdalena; Villatoro, Sergi; Oliva, Meritxell; Izquierdo, David; Giner Delgado, Carla; Montalvo, Víctor; García González, Judit; Martínez Fundichely, Alexander, 1978-; Capilla, Laia; Ruiz Herrera, Aurora; Estivill, Xavier, 1955-; Puig, Marta; Cáceres Aguilar, Mario (Public Library of Science (PLoS), 2014)
    In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult ...