Browsing by Author "Rodríguez, Juan Antonio"

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  • 267 spanish exomes reveal population-specific differences in disease-related genetic variation
    Dopazo, Joaquín; Rodríguez, Juan Antonio; Daub, Josephine T.; Muntané, Gerard; Navarro i Cuartiellas, Arcadi, 1969-; Antiñolo, Guillermo (Oxford University Press, 2016)
    Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local ...
  • A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer
    López De Maturana, Evangelina; Rodríguez, Juan Antonio; Lao Grueso, Oscar, 1976-; Iglesias Coma, Mar; Cecchini Rosell, Lluís; Ilzarbe Sánchez, Lucas; Real, Francisco X.; Malats i Riera, Núria (BioMed Central, 2021)
    Background: Pancreatic cancer (PC) is a complex disease in which both non-genetic and genetic factors interplay. To date, 40 GWAS hits have been associated with PC risk in individuals of European descent, explaining 4.1% ...
  • Affective state-based framework for e-learning systems
    Rodríguez, Juan Antonio; Comas, Joaquim; Binefa i Valls, Xavier (IOS Press, 2021)
    Virtual learning and education have become crucial during the COVID19 pandemic, which has forced a rethink by teachers and educators into designing online content and the indirect interaction with students. In an face-to-face ...
  • Combining Multiple Hypothesis Testing with Machine Learning Increases the Statistical Power of Genome-wide Association Studies
    Mieth, Bettina; Kloft, Marius; Rodríguez, Juan Antonio; Sonnenburg, Sören; Vobruba, Robin; Morcillo Suárez, Carlos, 1969-; Farré, Xavier; Marigorta, Urko M.; Fehr, Ernst; Dickhaus, Thorsten; Blanchard, Gilles; Schunk, Daniel; Navarro i Cuartiellas, Arcadi, 1969-; Müller, Klaus-Robert (Nature Publishing Group, 2016)
    The standard approach to the analysis of genome-wide association studies (GWAS) is based on testing each position in the genome individually for statistical significance of its association with the phenotype under ...
  • Discovering the 3' UTR-mediated regulation of alpha-synuclein
    Marchese, Domenica, 1986-; Botta Orfila, Teresa; Cirillo, Davide; Rodríguez, Juan Antonio; Livi, Carmen Maria; Fernández-Santiago, Ruben; Ezquerra, Mario; Martí, Maria José; Bechara, Elias; Tartaglia, Gian Gaetano; Catalan multiple system atrophy-registry (CMSAR) (Oxford University Press, 2017)
    Recent evidence indicates a link between Parkinson's Disease (PD) and the expression of a-synuclein (SNCA) isoforms with different 3' untranslated regions (3'UTRs). Yet, the post-transcriptional mechanisms regulating SNCA ...
  • Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples
    Mandage, Rajendra, 1984-; Telford, Marco, 1984-; Rodríguez, Juan Antonio; Farré, Xavier; Layouni, Hafid; Marigorta, Urko M.; Cundiff, Caitlin; Heredia Genestar, José María, 1985-; Navarro i Cuartiellas, Arcadi, 1969-; Santpere Baró, Gabriel, 1981- (Public Library of Science (PLoS), 2017)
    Epstein-Barr virus (EBV), human herpes virus 4, has been classically associated with infectious mononucleosis, multiple sclerosis and several types of cancers. Many of these diseases show marked geographical differences ...
  • Genomic analysis of the blood attributed to Louis XVI (1754–1793), king of France
    Olalde Marquínez, Íñigo, 1987-; Sánchez Quinto, Federico A, 1985-; Datta, Debayan; Marigorta, Urko M.; Chiang, Charleston W.K.; Rodríguez, Juan Antonio; Fernández Callejo, Marcos; González Navarrete, Irene, 1983-; Montfort, Magda; Matas Lalueza, Laura; Civit, Sergi; Luiselli, Donata; Charlier, Philippe; Pettener, Davide; Ramírez, Oscar; Navarro i Cuartiellas, Arcadi, 1969-; Himmelbauer, Heinz; Marquès i Bonet, Tomàs, 1975-; Lalueza Fox, Carles, 1965- (Nature Publishing Group, 2014)
    A pyrographically decorated gourd, dated to the French Revolution period, has been alleged to contain a handkerchief dipped into the blood of the French king Louis XVI (1754–1793) after his beheading but recent analyses ...
  • Hi-C chromosome conformation capture sequencing of avian genomes using the BGISEQ-500 platform
    Sandoval Velasco, Marcela; Rodríguez, Juan Antonio; Pérez Estrada, Cynthia; Zhang, Guojie; Lieberman Aiden, Erez; Martí Renom, Marc A.; Gilbert, M Thomas; Smith, Oliver (Oxford University Press, 2020)
    Background: Hi-C experiments couple DNA-DNA proximity with next-generation sequencing to yield an unbiased description of genome-wide interactions. Previous methods describing Hi-C experiments have focused on the ...
  • Impact of chronic bronchial infection by Staphylococcus aureus on bronchiectasis
    García Clemente, Marta; Olveira, Casilda; Girón, Rosa; Máiz, Luis; Sibila, Oriol; Golpe, Rafael; Menéndez Rosario; Rodríguez, Juan Antonio; Barreiro Portela, Esther; Rodríguez Hermosa, Juan Luis; Prados, Concepción; De la Rosa, David; Madrid Carbajal, Claudia; Solís-Mateos, Marta; Martínez-García, Miguel Ángel (MDPI, 2022)
    The objective of the study was to analyze the factors associated with chronic bronchial infection (CBI) due to methicillin-susceptible Staphylococcus aureus (SA) and assess the clinical impact on severity, exacerbations, ...
  • Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology
    Spataro, Nino, 1984-; Rodríguez, Juan Antonio; Navarro i Cuartiellas, Arcadi, 1969-; Bosch Fusté, Elena (Oxford University Press, 2017)
    Do genes presenting variation that has been linked to human disease have different biological properties than genes that have never been related to disease? What is the relationship between disease and fitness? Are the ...
  • Replicability and prediction: lessons and challenges from GWAS
    Marigorta, Urko M.; Rodríguez, Juan Antonio; Gibson, Greg; Navarro i Cuartiellas, Arcadi, 1969- (Elsevier, 2018)
    Since the publication of the Wellcome Trust Case Control Consortium (WTCCC) landmark study a decade ago, genome-wide association studies (GWAS) have led to the discovery of thousands of risk variants involved in disease ...
  • STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells
    Richart, Laia; Lapi, Eleonora; Pancaldi, Vera; Cuenca-Ardura, Mirabai; Carrillo-de-Santa Pau, Enrique; Madrid-Mencía, Miguel; Neyret-Kahn, Hélène; Radvanyi, François; Rodríguez, Juan Antonio; Cuartero, Yasmina; Serra, François; Le Dily, François; Valencia, Alfonso; Martí Renom, Marc A.; Real, Francisco X. (Oxford University Press, 2021)
    Cohesin exists in two variants containing STAG1 or STAG2. STAG2 is one of the most mutated genes in cancer and a major bladder tumor suppressor. Little is known about how its inactivation contributes to tumorigenesis. Here, ...