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The European Genome-phenome Archive in 2021

2021; Oxford University Press; Volume: 50; Issue: D1 Linguagem: Inglês

10.1093/nar/gkab1059

1362-4962

Mallory Freeberg, Lauren A. Fromont, Teresa D’Altri, Anna Foix, Jorge Izquierdo Ciges, Aina Jené, Giselle Kerry, Mauricio Moldes, Roberto Ariosa, Saiveth Hernandez, Daniel Barrowdale, Marcos Casado Barbero, Dietmar Fernández‐Orth, Carles Garcia-Linares, Emilio García Ríos, Frédéric Haziza, Bela Juhasz, Oscar Martinez Llobet, Gemma Milla, Anand Mohan, Manuel Rueda, Aravind Sankar, Dona Shaju, Ashutosh Shimpi, Babita Singh, Coline Thomas, Sabela de la Torre, Umuthan Uyan, Claudia Vasallo, Paul Flicek, Roderic Guigó, Arcadi Navarro, Helen Parkinson, Thomas Keane, Jordi Rambla,

Cancer Genomics and Diagnostics

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.