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German Human Genome-Phenome Archive

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German genome database
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.

Goals/Ambitions

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. This enables the secondary use of data primarily collected in diagnostics, personalized medicine and biomedical research.

Genomic data are sensitive, personal data 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.

Goals:

  • 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

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
  • Standardised, interoperable and reproducible omics workflows for the scientific community
  • Legal and ethical basis for omics research, including the development of a legal basis for data sharing and tools on consent
  • Metadata model to provide standardised information on submitted omics data and to facilitate data findability
  • Educational material for and about omics research and its societal relevance

National and international context

Within Germany, GHGA is partnering with genomDE 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".

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. In the context of the GDI project 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

History

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. 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.

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

Participating institutions

Partner institutions

References

  1. ^ 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. ^ 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. ^ "GHGA Mission". Retrieved 2023-03-07.
  6. "What personal data is considered sensitive?". Retrieved 2023-03-07.
  7. ^ "GHGA Metadata Catalog". Retrieved 2023-03-07.
  8. "GHGA Data Analysis Tools". Retrieved 2023-04-12.
  9. "GHGA Consent Tools". Retrieved 2023-03-07.
  10. Bruns, Andreas; Benet-Pages, Anna; Eufinger, Jan; Graessner, Holm; Kohlbacher, Oliver; Molnár-Gábor, Fruzsina; Parker, Simon; Schickhardt, Christoph; Stegle, Oliver; Winkler, Eva (2022). "Consent Modules for Data Sharing via the German Human Genome-Phenome Archive (GHGA)": 12. doi:10.5281/zenodo.6828131. {{cite journal}}: Cite journal requires |journal= (help)CS1 maint: multiple names: authors list (link)
  11. "The GHGA Metadata Model". Retrieved 2023-03-07.
  12. "GHGA Training Portal". Retrieved 2023-03-07.
  13. "The GHGA Podcast: Der Code des Lebens" (in German). Retrieved 2023-03-07.
  14. "genomDE Webseite" (in German). Retrieved 2023-03-07.
  15. "genomDE- National Strategy for Genomic Medicine". Bundesministerium für Gesundheit. Retrieved 2023-03-07.
  16. "PROVIDING SAFE ACCESS TO SENSITIVE HUMAN DATA ACROSS BORDERS: FEDERATED EGA BECOMES A REALITY". Retrieved 2023-03-07.
  17. "Genomic Data Infrastructure (GDI)". Retrieved 2023-03-07.
  18. "European '1+ Million Genomes' Initiative". Retrieved 2023-03-07.
  19. "GHGA Letter of Intent send to DfG in 2019" (PDF). Retrieved 2023-03-07.
  20. "Förderung von zehn Konsortien der Nationalen Forschungsdateninfrastruktur (NFDI) beschlossen" (PDF) (in German). Retrieved 2023-03-07.
  21. "Launching the GHGA Metadata Catalog". Retrieved 2023-03-07.
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