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

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).

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-09-08
DOI
https://doi.org/10.5281/zenodo.17079326
Primary Topic
Geochemistry and Geologic Mapping
Type
article
Field-Weighted Citation Impact
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article

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

Zenodo (CERN European Organization for Nuclear Research)
Geochemistry and Geologic Mapping
article

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

article en

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).

Zenodo (CERN European Organization for Nuclear Research)
Max Delbrück Center (DE), German Center for Neurodegenerative Diseases (DE)
Industry, innovation and infrastructure
Openalex Percentile: Top 49%
Geochemistry and Geologic Mapping
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