Organization:German Human Genome-Phenome Archive

From HandWiki
Short description: 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.[1][2]

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.[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

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

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

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

Partner institutions

References

  1. ↑ 1.0 1.1 Molnár-Gábor, F., Korbel, J., & GHGA-Konsortium. (2021) (in de). Das Deutsche Humangenom-Phenomarchiv.. pp. 2. doi:10.26125/7k2x-dp05. 
  2. ↑ 2.0 2.1 Eufinger, J., Korbel J., Winkler E., Kohlbacher O., und Stegle O. (2021) (in de). Genomdaten FAIR und Sicher Teilen: Das Deutsche Humangenom-Phänom Archiv (GHGA) als Baustein der Nationalen Forschungsdateninfrastruktur. doi:10.17192/bfdm.2021.2.8349. 
  3. ↑ Mark D Wilkinson, Michel Dumontier, I Jsbrand Jan Aalbersberg, Gabrielle Appleton, Myles Axton, Arie Baak, Niklas Blomberg, Jan-Willem Boiten (1996) (in en). The FAIR Guiding Principles for scientific data management and stewardship. doi:10.1038/sdata.2016.18. 
  4. ↑ "FAIR principles" (in en). GO FAIR International Support and Coordination Office. https://www.go-fair.org/fair-principles/. 
  5. ↑ 5.0 5.1 "GHGA Mission" (in en). https://www.ghga.de/about-us/mission. 
  6. ↑ "What personal data is considered sensitive?" (in en). https://commission.europa.eu/law/law-topic/data-protection/reform/rules-business-and-organisations/legal-grounds-processing-data/sensitive-data/what-personal-data-considered-sensitive_en. 
  7. ↑ 7.0 7.1 "GHGA Metadata Catalog" (in en). https://catalog.ghga.de. 
  8. ↑ "GHGA Data Analysis Tools" (in en). https://www.ghga.de/resources/data-analysis. 
  9. ↑ "The GHGA Metadata Model" (in en). https://www.ghga.de/resources/metadata-model. 
  10. ↑ "GHGA Training Portal" (in en). https://www.ghga.de/resources/training. 
  11. ↑ "The GHGA Podcast: Der Code des Lebens" (in de). https://www.ghga.de/de/codedeslebens. 
  12. ↑ "genomDE Webseite" (in de). https://genom.de. 
  13. ↑ "genomDE- National Strategy for Genomic Medicine" (in en). Bundesministerium für Gesundheit. https://www.bundesgesundheitsministerium.de/en/en/international/european-health-policy/genomde-en.html. 
  14. ↑ "PROVIDING SAFE ACCESS TO SENSITIVE HUMAN DATA ACROSS BORDERS: FEDERATED EGA BECOMES A REALITY" (in en). https://ega-archive.org/blog/safe-access-to-sensitive-human-data-across-borders-federated-ega/. 
  15. ↑ "Genomic Data Infrastructure (GDI)" (in en). https://gdi.onemilliongenomes.eu. 
  16. ↑ "European '1+ Million Genomes' Initiative" (in en). https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes. 
  17. ↑ "GHGA Letter of Intent send to DfG in 2019" (in en). https://www.dfg.de/download/pdf/foerderung/programme/nfdi/absichtserklaerungen_2019/2019_ghga.pdf. 
  18. ↑ "Förderung von zehn Konsortien der Nationalen Forschungsdateninfrastruktur (NFDI) beschlossen." (in de). https://www.gwk-bonn.de/fileadmin/Redaktion/Dokumente/Pressemitteilungen/pm2021-04.pdf. 
  19. ↑ "Launching the GHGA Metadata Catalog" (in en). https://www.ghga.de/news/detail/launching-the-ghga-metadata-catalog. 



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