Work

GHGA Archive Model: Enabling FAIR and Secure Access to Genomic Data through Advanced Metadata Management

Year: 2025

Type: conference-paper

Abstract: The Global Alliance for Genomics and Health (GA4GH) has estimated that over sixty million patients would have their genome sequenced by the end of 2025. As the volume and complexity of genomic datasets continue to grow, ensuring efficient data storage, retrieval, and controlled access remains a critical challenge. The German Human Genome-Phenome Archive (GHGA) is an omics data infrastructure designed to enable secure, scalable, and FAIR (Findable, Accessible, Interoperable, and Reusable) access to human genomic and associated phenotypic data. To address these challenges, we implemented a semantic metadata framework that ensures compliance with global genomic data-sharing initiative such as the Federated European Genome Archive and minimum information standards such as MINSEQE (Minimum Information about a high-throughput sequencing experiment) and minSCe (Minimum information about a single-cell experiment).

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.17079325

Authors: Mauer, Karoline, Iyappan, Anandhi, Menges, Paul, Bilgin, Sürün, Galina, Tremper, Kırlı, Koray, Nahnsen, Sven, Ulas, Thomas, Schultze, Joachim, Bork, Peer

Institutions: German Center for Neurodegenerative Diseases, German Cancer Research Center, Max Delbrück Center, European Molecular Biology Laboratory, European Molecular Biology Laboratory

Language: English

Topic: Research Data Management Practices

Subfield: Information Systems

Field: Computer Science

Domain: Physical Sciences

Open Access status: green

OpenAlex ID: W7080501758

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