German Human Genome-Phenome Archive

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German Human Genome-Phenome Archive
Deutsches Humangenom-Phänomarchiv
AbbreviationGHGA
Formation2020-10-01
Legal statusConsortia in Nationale Forschungsdateninfrastruktur (NFDI) e.V.
Location
Productshttps://catalog.ghga.de
LeaderOliver Stegle (Speaker)
Websitehttps://www.ghga.de

The German Human Genome-Phenome Archive (GHGA) is a consortium within the national data infrastructure (NFDI). GHGA aims to create a secure national data infrastructure for human omics data in order to make these data available for scientific research while preventing the misuse of data.[1][2]

Goals/Ambitions[edit]

The main goal of GHGA is to establish a national infrastructure for human omics data. These data are to be made accessible in accordance with the FAIR principles.[3][4] This enables the secondary use of data primarily collected in diagnostics, personalized medicine and biomedical research.[5]

Genomic data are sensitive, personal data[6] and require careful protection to minimise the risk of re-identification of the data subject. GHGA implements the legal requirements specific to Germany (GDPR) and thus allows human omics data to be brought together, stored and analysed in a secure, uniform and data protection-compliant framework.[5]

Goals:[1][2]

  • Establishing a national, secure long-term archive of human omics data.
  • Tackling legal and ethical obstacles for data sharing through the implementation of an unified ethico-legal framework.
  • Increasing the FAIRness of omics data and facilitating its embedding in national and international data resources and infrastructures.
  • Democratising access to and analysis of large-scale omics data for research via a cloud-based analytics platform.
  • Increasing the value of research data by integrating multiple omics modalities and linking omics data with phenotype data.
  • Training the next generation of scientists in the efficient and responsible use and management of omics data in research.

Resources/ Services[edit]

GHGA is developing a variety of services for the research community. Aside from setting up a data portal, the focus is on tackling ethical and legal issues. GHGA also works on analysing data by co-developing standardised bioinformatics analysis methods.

  • Infrastructure for GDPR-compliant sharing of human omics data for secondary purposes[7]
  • Standardised, interoperable and reproducible omics workflows for the scientific community[8]
  • Legal and ethical basis for omics research, including the development of a legal basis for data sharing and tools on consent[9][10]
  • Metadata model to provide standardised information on submitted omics data and to facilitate data findability[11]
  • Educational material for and about omics research and its societal relevance[12][13]

National and international context[edit]

Within Germany, GHGA is partnering with genomDE[14] as a research data infrastructure. genomDE is the national strategy for genomic medicine and is intended to make the use of genomic information an "innovative component of standard medical care in Germany".[15]

Within Europe, GHGA is part of the federated network of the European Genome-phenome Archive (EGA). Functioning as the German node of EGA, the data from GHGA are findable and usable with data from other European studies via compatible standards and metadata.[16] In the context of the GDI project[17] funded by the European Commission and the Federal Ministry of Education and Research (Germany), GHGA ensures that German data collections can also be used within the framework of the „1+ Million Genomes“-Initiative[18]

History[edit]

On 4 July 2019, the German Cancer Research Center, as the applicant institution, submitted the binding pre-application (Letter of Intent) to the DFG Head Office.[19] On 26 June 2020, GHGA was approved by a funding decision of the Joint Science Conference together with eight other consortia in the first application round.[20]

In March 2023, the GHGA Metadata Catalog was made available as part of the project’s first phase.[7] The GHGA Metadata Catalog is a public portal for searching study data from German research institutions.[21]

Participating institutions[edit]

Partner institutions[edit]

References[edit]

  1. ^ a b Molnár-Gábor, F., Korbel, J., & GHGA-Konsortium. (2021). "Das Deutsche Humangenom-Phenomarchiv" (in German): 2. doi:10.26125/7k2x-dp05. {{cite journal}}: Cite journal requires |journal= (help)CS1 maint: multiple names: authors list (link)
  2. ^ a b Eufinger, J., Korbel J., Winkler E., Kohlbacher O., und Stegle O. (2021). "Genomdaten FAIR und Sicher Teilen: Das Deutsche Humangenom-Phänom Archiv (GHGA) als Baustein der Nationalen Forschungsdateninfrastruktur" (in German). doi:10.17192/bfdm.2021.2.8349. {{cite journal}}: Cite journal requires |journal= (help)CS1 maint: multiple names: authors list (link)
  3. ^ Mark D Wilkinson, Michel Dumontier, I Jsbrand Jan Aalbersberg, Gabrielle Appleton, Myles Axton, Arie Baak, Niklas Blomberg, Jan-Willem Boiten (1996). "The FAIR Guiding Principles for scientific data management and stewardship". doi:10.1038/sdata.2016.18. hdl:2381/43967. {{cite journal}}: Cite journal requires |journal= (help)CS1 maint: multiple names: authors list (link)
  4. ^ "FAIR principles". GO FAIR International Support and Coordination Office. Retrieved 2023-03-07.
  5. ^ a b "GHGA Mission". Retrieved 2023-03-07.
  6. ^ "What personal data is considered sensitive?". Retrieved 2023-03-07.
  7. ^ a b "GHGA Metadata Catalog". Retrieved 2023-03-07.
  8. ^ "GHGA Data Analysis Tools". Retrieved 2023-04-12.
  9. ^ "The GHGA Metadata Model". Retrieved 2023-03-07.
  10. ^ "GHGA Training Portal". Retrieved 2023-03-07.
  11. ^ "The GHGA Podcast: Der Code des Lebens" (in German). Retrieved 2023-03-07.
  12. ^ "genomDE Webseite" (in German). Retrieved 2023-03-07.
  13. ^ "genomDE- National Strategy for Genomic Medicine". Bundesministerium für Gesundheit. Retrieved 2023-03-07.
  14. ^ "PROVIDING SAFE ACCESS TO SENSITIVE HUMAN DATA ACROSS BORDERS: FEDERATED EGA BECOMES A REALITY". Retrieved 2023-03-07.
  15. ^ "Genomic Data Infrastructure (GDI)". Retrieved 2023-03-07.
  16. ^ "European '1+ Million Genomes' Initiative". Retrieved 2023-03-07.
  17. ^ "GHGA Letter of Intent send to DfG in 2019" (PDF). Retrieved 2023-03-07.
  18. ^ "Förderung von zehn Konsortien der Nationalen Forschungsdateninfrastruktur (NFDI) beschlossen" (PDF) (in German). Retrieved 2023-03-07.
  19. ^ "Launching the GHGA Metadata Catalog". Retrieved 2023-03-07.
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