Browsing by Author "Jene, Aina"

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  • A quality control portal for sequencing data deposited at the European genome-phenome archive
    Fernández-Orth, Dietmar; Rueda, Manuel; Singh, Babita, 1986-; Moldes, Mauricio; Jene, Aina; Ferri, Marta; Vasallo, Claudia; Fromont, Lauren A.; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
    Since its launch in 2008, the European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data. In this regard, one of the community concerns is the potential usability ...
  • Extreme downregulation of chromosome Y and cancer risk in men
    Cáceres, Alejandro; Jene, Aina; Esko, Tõnu; Pérez Jurado, Luis Alberto; González, Juan Ramón (Oxford University Press, 2020)
    Background: Understanding the biological differences between sexes in cancer is essential for personalized treatment and prevention. We hypothesized that the extreme downregulation of chromosome Y gene expression (EDY) is ...
  • The data use ontology to streamline responsible access to human biomedical datasets
    Lawson, Jonathan; Jene, Aina; Rambla de Argila, Jordi; Courtot, Mélanie (Elsevier, 2021)
    Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken ...
  • The European Genome-phenome Archive in 2021
    Freeberg, Mallory Ann; Fromont, Lauren A.; D'Altri, Teresa, 1984-; Jene, Aina; Moldes, Mauricio; Ariosa, Roberto; Fernández-Orth, Dietmar; Haziza, Frédéric; Martinez Llobet, Oscar; Milla, Gemma; Rueda, Manuel; Singh, Babita, 1986-; Torre, Sabela de la; Uyan, Umuthan; Vasallo, Claudia; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
    The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical ...