Browsing by Author "Morcillo Suárez, Carlos, 1969-"

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  • 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 ...
  • Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
    Gazave, Elodie; Darre, Fleur; Morcillo Suárez, Carlos, 1969-; Petit, Natalia; Carreño Torres, Angel; Marigorta, Urko M.; Ryder, Oliver A.; Blancher, Antoine; Rocchi, Mariano; Bosch Fusté, Elena; Baker, Carl; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Navarro i Cuartiellas, Arcadi, 1969- (Cold Spring Harbor Laboratory Press (CSHL Press), 2011)
    Copy number variants (CNVs) are increasingly acknowledged as an important source of evolutionary novelties in the human lineage. However, our understanding of their significance is still hindered by the lack of primate CNV ...
  • Copy number variation underlies complex phenotypes in domestic dog breeds and other canids
    Serres Armero, Aitor, 1992-; Davis, Brian W.; Povolotskaya, Inna, 1986-; Morcillo Suárez, Carlos, 1969-; Plassais, Jocelyn; Juan, David; Ostrander, Elaine A.; Marquès i Bonet, Tomàs, 1975- (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)
    Extreme phenotypic diversity, a history of artificial selection, and socioeconomic value make domestic dog breeds a compelling subject for genomic research. Copy number variation (CNV) is known to account for a significant ...
  • Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD
    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 ...
  • Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
    Karlsson Linnér, Richard; Gonzalez, Juan Ramon; Muntané, Gerard; Morcillo Suárez, Carlos, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Beauchamp, Jonathan P. (Nature Research, 2019)
    Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky ...
  • 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 ...
  • Mapping co-ancestry connections between the genome of a Medieval individual and modern Europeans
    Ferrando Bernal, Manuel; Morcillo Suárez, Carlos, 1969-; de Dios, Toni; Gelabert Xirinachs, Pere, 1991-; Civit, Sergi; Díaz Carvajal, Antonia; Ollich Castanyer, Imma; Allentoft, Morten E.; Valverde, Sergi; Lalueza Fox, Carles, 1965- (Nature Research, 2020)
    Historical genetic links among similar populations can be difficult to establish. Identity by descent (IBD) analyses find genomic blocks that represent direct genealogical relationships among individuals. However, this ...
  • 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 ...
  • 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 ...
  • Population dynamics and genetic connectivity in recent chimpanzee history
    Fontseré Alemany, Clàudia, 1992-; Kuhlwilm, Martin; Morcillo Suárez, Carlos, 1969-; Alvarez-Estape, Marina; Hecht, Jochen; Marquès i Bonet, Tomàs, 1975- (Elsevier, 2022)
    Knowledge on the population history of endangered species is critical for conservation, but whole-genome data on chimpanzees (Pan troglodytes) is geographically sparse. Here, we produced the first non-invasive geolocalized ...
  • Recent human evolution has shaped geographical differences in susceptibility to disease
    Marigorta, Urko M.; Lao Grueso, Oscar, 1976-; Casals López, Ferran; Calafell i Majó, Francesc; Morcillo Suárez, Carlos, 1969-; Faria, Rui; Bosch Fusté, Elena; Serra, François; Bertranpetit, Jaume, 1952-; Dopazo, Hernán; Navarro i Cuartiellas, Arcadi, 1969- (BioMed Central, 2011)
    Background: Searching for associations between genetic variants and complex diseases has been a very active area of research for over two decades. More than 51,000 potential associations have been studied and published, a ...
  • The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
    Prado Martínez, Javier, 1987-; Hernando Herráez, Irene, 1985-; Lorente-Galdós, Belén, 1981-; Dabad, Marc; Ramírez, Oscar; Baeza Delgado, Carlos; Morcillo Suárez, Carlos, 1969-; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernández Callejo, Marcos; Vallès, Mònica; Ritscher, Lars; Schöneberg, Torsten; Calle Mustienes, Elisa de la; Casillas, Sònia; Rubio Acero, Raquel; Melé Messeguer, Marta, 1982-; Engelken, Johannes; Cáceres Aguilar, Mario; Gómez Skarmeta, José Luis; Gut, Marta; Bertranpetit, Jaume, 1952-; Gut, Ivo Glynne; Abelló, Teresa; Eichler, Evan E.; Mingarro, Ismael; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975- (BioMed Central, 2013)
    BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous ...