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01 07, 2022;50 (D1): D980-D987.

The European Genome-phenome Archive in 2021.

Mallory Ann Freeberg, Lauren A Fromont, Teresa D'Altri, Anna Foix Romero, Jorge Izquierdo Ciges, Aina Jene, Giselle Kerry, Mauricio Moldes, Roberto Ariosa, Silvia Bahena, Daniel Barrowdale, Marcos Casado Barbero, Dietmar Fernandez-Orth, Carles Garcia-Linares, Emilio Garcia-Rios, 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 Guigo, Arcadi Navarro, Helen Parkinson, Thomas Keane, Jordi Rambla
Author Information
  1. Mallory Ann Freeberg: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK. ORCID
  2. Lauren A Fromont: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain. ORCID
  3. Teresa D'Altri: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain. ORCID
  4. Anna Foix Romero: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  5. Jorge Izquierdo Ciges: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  6. Aina Jene: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  7. Giselle Kerry: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  8. Mauricio Moldes: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  9. Roberto Ariosa: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  10. Silvia Bahena: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  11. Daniel Barrowdale: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  12. Marcos Casado Barbero: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  13. Dietmar Fernandez-Orth: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  14. Carles Garcia-Linares: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  15. Emilio Garcia-Rios: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  16. Frédéric Haziza: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  17. Bela Juhasz: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  18. Oscar Martinez Llobet: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  19. Gemma Milla: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  20. Anand Mohan: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  21. Manuel Rueda: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  22. Aravind Sankar: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  23. Dona Shaju: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  24. Ashutosh Shimpi: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  25. Babita Singh: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  26. Coline Thomas: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  27. Sabela de la Torre: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  28. Umuthan Uyan: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  29. Claudia Vasallo: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  30. Paul Flicek: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK. ORCID
  31. Roderic Guigo: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  32. Arcadi Navarro: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
  33. Helen Parkinson: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
  34. Thomas Keane: European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK. ORCID
  35. Jordi Rambla: Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.
PMID: 34791407 DOI: 10.1093/nar/gkab1059

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.

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Grants

  1. /Wellcome Trust
  2. 201535/Z/16/Z/Wellcome Trust

MeSH Term

Confidentiality
Datasets as Topic
Genome, Human
Genotype
History, 20th Century
History, 21st Century
Humans
Information Dissemination
Metadata
Phenomics
Phenotype
Translational Research, Biomedical
Historical Article Journal Article Research Support, Non-U.S. Gov't

Links to CNCB-NGDC Resources

Database Commons: DBC006293 (EGA)
Article has an altmetric score of 20

Word Cloud

Created with Highcharts 10.0.0EGAdatavalueaccessEuropeanGenome-phenomeArchivearchivingbiomedicalresearchhostedchainleadingstandards-https://ega-archiveorg/resourcelongtermsecuretypespotentiallyidentifiablegeneticphenotypicclinicalresultingprojectsmissionfosterreuseenablereproducibilityacceleratetranslationallineFAIRprinciplesLaunched2008grownquicklycurrently4500studiesnearlyonethousandinstitutionsoperatesdistributedmodelrequestsmadecontrollerthereforesubmitterkeepscontrolconditionsGivensizeconstantlyimprovingcancontributeenhancinghumanhealthfacilitatingsubmissiondiscoverydistributionwelldesignimplementationmethodsnecessarydeliverbecomekeyGA4GHDriverProjectmultipledevelopmenteffortsimplementingnewtoolsappointedELIXIRCoreDataResource2021

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