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The European Genome-phenome Archive of human data consented for biomedical research

2015; Nature Portfolio; Volume: 47; Issue: 7 Linguagem: Inglês

10.1038/ng.3312

1546-1718

Ilkka Lappalainen, J. P. Almeida, Vasudev Kumanduri, Alexander Senf, Dylan Spalding, Saif Ur-Rehman, Gary Saunders, Jag Kandasamy, Mario Cáccamo, Rasko Leinonen, Brendan Vaughan, Thomas Laurent, Francis Rowland, Pablo Marín-García, Juliet N. Barker, Petteri Jokinen, Angel Carreño Torres, Jordi Rambla, Oscar Martinez Llobet, Ignacio Medina, Marc Sitges Puy, Mario Alberich, Sabela de la Torre, Arcadi Navarro, Justin Paschall, Paul Flicek,

Genetic Associations and Epidemiology

Paul Flicek and colleagues provide an update on the European Genome-phenome Archive (EGA), a service of the European Bioinformatics Institute (EMBL-EBI) and the Center for Genome Regulation (CRG). The authors describe the EGA policies and infrastructure, how access decisions are made, methods for data submission and future plans for expansion of this database. The European Genome-phenome Archive (EGA) is a permanent archive that promotes the distribution and sharing of genetic and phenotypic data consented for specific approved uses but not fully open, public distribution. The EGA follows strict protocols for information management, data storage, security and dissemination. Authorized access to the data is managed in partnership with the data-providing organizations. The EGA includes major reference data collections for human genetics research.