The European Genome-phenome Archive in 2021

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  • dc.contributor.author Freeberg, Mallory Ann
  • dc.contributor.author Fromont, Lauren A.
  • dc.contributor.author D'Altri, Teresa, 1984-
  • dc.contributor.author Jene, Aina
  • dc.contributor.author Moldes, Mauricio
  • dc.contributor.author Ariosa, Roberto
  • dc.contributor.author Fernández-Orth, Dietmar
  • dc.contributor.author Haziza, Frédéric
  • dc.contributor.author Martinez Llobet, Oscar
  • dc.contributor.author Milla, Gemma
  • dc.contributor.author Rueda, Manuel
  • dc.contributor.author Singh, Babita, 1986-
  • dc.contributor.author Torre, Sabela de la
  • dc.contributor.author Uyan, Umuthan
  • dc.contributor.author Vasallo, Claudia
  • dc.contributor.author Guigó Serra, Roderic
  • dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
  • dc.contributor.author Rambla de Argila, Jordi
  • dc.date.accessioned 2022-02-16T07:42:22Z
  • dc.date.available 2022-02-16T07:42:22Z
  • dc.date.issued 2022
  • dc.description.abstract 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 research projects. Its mission is to foster hosted data reuse, enable reproducibility, and accelerate biomedical and translational research in line with the FAIR principles. Launched in 2008, the EGA has grown quickly, currently archiving over 4,500 studies from nearly one thousand institutions. The EGA operates a distributed data access model in which requests are made to the data controller, not to the EGA, therefore, the submitter keeps control on who has access to the data and under which conditions. Given the size and value of data hosted, the EGA is constantly improving its value chain, that is, how the EGA can contribute to enhancing the value of human health data by facilitating its submission, discovery, access, and distribution, as well as leading the design and implementation of standards and methods necessary to deliver the value chain. The EGA has become a key GA4GH Driver Project, leading multiple development efforts and implementing new standards and tools, and has been appointed as an ELIXIR Core Data Resource.
  • dc.description.sponsorship Horizon 2020 Programme of the European Union [CORBEL [654248], ELIXIR-EXCELERATE [676559], Solve-RD [779257], EASI-Genomics [824110], EJP-RD [825575], CINECA [825775], EuCanCan [825835], EUCanshare [825903], ELIXIR-CONVERGE [871075]]; Wellcome Trust Global Alliance for Genomics and Health [201535/Z/16/Z]; UK Biobank; Chan Zuckerberg Initiative DAF, an advised fund of Silicon Valley Community Foundation [2017-171304 (5022)]; European Molecular Biology Laboratory (EMBL); LaCaixa Foundation [004745/008034]; [LCF/PR/CE20/50740008]. Funding for open access charge: LaCaixa Foundation [LCF/PR/CE20/50740008].
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Freeberg MA, Fromont LA, D'Altri T, Romero AF, Ciges JI, Jene A et al. The European Genome-phenome Archive in 2021. Nucleic Acids Res. 2022;50(D1):D980-D987. DOI: 10.1093/nar/gkab1059
  • dc.identifier.doi http://dx.doi.org/10.1093/nar/gkab1059
  • dc.identifier.issn 0305-1048
  • dc.identifier.uri http://hdl.handle.net/10230/52506
  • dc.language.iso eng
  • dc.publisher Oxford University Press
  • dc.relation.ispartof Nucleic Acids Res. 2022;50(D1):D980-D987
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/654248
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/676559
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/824110
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825575
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825775
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825835
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825903
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/871075
  • dc.rights © The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri https://creativecommons.org/licenses/by-nc/4.0/
  • dc.title The European Genome-phenome Archive in 2021
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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