Browsing by Author "Ruiz-Arenas, Carlos"

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  • Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis
    Ruiz-Arenas, Carlos; Cáceres, Alejandro; Moreno, Víctor; González, Juan Ramón (BioMed Central, 2019)
    Background: Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unknown ...
  • Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood
    Ruiz-Arenas, Carlos; Hernandez-Ferrer, Carles, 1987-; Vives Usano, Marta, 1990-; Marí, Sergi; Casas Sanahuja, Maribel; Vafeiadi, Marina, 1983-; Vrijheid, Martine; González Ruiz, Juan Ramón; Bustamante Pineda, Mariona (eLife Sciences Publications, 2022)
    Background: The identification of expression quantitative trait methylation (eQTMs), defined as associations between DNA methylation levels and gene expression, might help the biological interpretation of epigenome-wide ...
  • Multi-omics signatures of the human early life exposome
    Maitre, Léa; Bustamante Pineda, Mariona; Hernández Ferrer, Carles; Vives Usano, Marta, 1990-; Ruiz-Arenas, Carlos; Pelegrí-Sisó, Dolors; Casas Sanahuja, Maribel; Sunyer Deu, Jordi; Nieuwenhuijsen, Mark J.; Urquiza, José M.; Borràs, Eva; Sabidó Aguadé, Eduard, 1981-; Estivill, Xavier, 1955-; González, Juan Ramón; Vrijheid, Martine (Nature Research, 2022)
    Environmental exposures during early life play a critical role in life-course health, yet the molecular phenotypes underlying environmental effects on health are poorly understood. In the Human Early Life Exposome (HELIX) ...
  • MultiDataSet: an R package for encapsulating multiple data sets with application to omic data integration
    Hernandez-Ferrer, Carles, 1987-; Ruiz-Arenas, Carlos; Beltran-Gomila, Alba; González Ruiz, Juan Ramón (BioMed Central, 2017)
    BACKGROUND: Reduction in the cost of genomic assays has generated large amounts of biomedical-related data. As a result, current studies perform multiple experiments in the same subjects. While Bioconductor's methods and ...
  • ScoreInvHap: inversion genotyping for genome-wide association studies
    Ruiz-Arenas, Carlos; Cáceres, Alejandro; López Sánchez, Marcos, 1986-; Tolosana, Ignacio; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS), 2019)
    Polymorphic inversions contribute to adaptation and phenotypic variation. However, large multi-centric association studies of inversions remain challenging. We present scoreInvHap, a method to genotype inversions from SNP ...
  • The early-life exposome modulates the effect of polymorphic inversions on DNA methylation
    Carreras-Gallo, Natàlia; Cáceres, Alejandro; Balagué-Dobón, Laura; Ruiz-Arenas, Carlos; Casas Sanahuja, Maribel; Maitre, Léa; Nieuwenhuijsen, Mark J.; Stratakis, Nikos; Urquiza, José M.; Bustamante Pineda, Mariona; Vrijheid, Martine; Pérez Jurado, Luis Alberto; Gonzalez, Juan Ramon (Nature Research, 2022)
    Polymorphic genomic inversions are chromosomal variants with intrinsic variability that play important roles in evolution, environmental adaptation, and complex traits. We investigated the DNA methylation patterns of three ...