Published September 13, 2023
| Version 1
Project milestone
Open
Metadata Schema for the German Human Genome-Phenome Archive
Authors/Creators
- 1. Structural and Computational Biology Unit, European Molecular Laboratory (EMBL), Heidelberg, Germany
- 2. Systems Medicine, German Center for Neurodegenerative Diseases (DZNE) e.V., Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), PRECISE Platform for Genomics and Epigenomics at DZNE, University of Bonn, Germany
- 3. German Human Genome-Phenome Archive (GHGA, W620), German Cancer Research Center (DKFZ), Heidelberg, Germany; Core Facility Omics IT and Data Management (ODCF, W610), German Cancer Research Center (DKFZ), Heidelberg, Germany
- 4. Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany
- 5. German Human Genome-Phenome Archive (GHGA, W620), German Cancer Research Center (DKFZ), Heidelberg, Germany; Federated Information Systems, German Cancer Research Center (DKFZ), Heidelberg, Germany; Complex Data Processing in Medical Informatics, University Medical Center Mannheim, Germany
- 6. German Human Genome-Phenome Archive (GHGA, W620), German Cancer Research Center (DKFZ), Heidelberg, Germany; Juristische Fakultät, Universität Heidelberg, Heidelberg, Germany
- 7. German Human Genome-Phenome Archive (GHGA, W620), German Cancer Research Center (DKFZ), Heidelberg, Germany
- 8. Systems Medicine, German Center for Neurodegenerative Diseases (DZNE) e.V., Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), PRECISE Platform for Genomics and Epigenomics at DZNE, University of Bonn, Germany; Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany
- 9. Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany; Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany
Description
This White Paper summarizes the development of the German Human Genome-Phenome Archive (GHGA) Metadata Model and describes the modeling framework in detail. Further, it elaborates on implemented ontologies, data privacy considerations and alignment with other (inter-) national consortia.
Notes
This project was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) as part of GHGA – The German Human Genome-Phenome Archive (www.ghga.de, Grant Number 441914366 (NFDI 1/1))
Files
GHGA Metadata Schema Whitepaper.pdf
Files
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