GRETA: a results database for whole-genome sequencing studies

Whole-genome sequencing in large cohorts generates vast numbers of genetic association results, but integrating and querying them alongside public reference data remains a challenge for the diverse stakeholders involved. To address this challenge, we developed the Genetic REsults daTAbase (GRETA), a relational database that stores in-house association results alongside public reference data and functional annotation resources, facilitating their integration, querying and analysis. Following a requirements-engineering process grounded in user-centred design, we defined product specifications spanning 8 categories, including data upload, a graphical user interface, identity and access management, and data protection. Based on these requirements, we evaluated commercial database solutions and selected a vendor to implement them. The resulting platform provides a user-friendly interface for interactive querying and visualisation, making large-scale association results accessible to researchers without programming skills, and links every result to its underlying data and analysis parameters, supporting reproducibility and traceability. We publish the product requirements, the relational schema and the list of functionalities so that the system can be reproduced elsewhere. GRETA offers a secure, multi-user solution for exploring genetic association results and their functional annotation at scale.

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Publication Details

Journal
BMC Bioinformatics
Published
2026-10-05
DOI
https://doi.org/10.1186/s12859-026-06688-6
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
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article

GRETA: a results database for whole-genome sequencing studies

Raphael Twerenbold, Cristian Riccio, Andreas Ziegler, Tanja Zeller et al.
BMC Bioinformatics
Genomics and Phylogenetic Studies
article

GRETA: a results database for whole-genome sequencing studies

Raphael Twerenbold, Cristian Riccio, Andreas Ziegler, Tanja Zeller, Georgios Koliopanos, Amra Dhabalia Ashok, Linlin Guo
article en

Abstract

Whole-genome sequencing in large cohorts generates vast numbers of genetic association results, but integrating and querying them alongside public reference data remains a challenge for the diverse stakeholders involved. To address this challenge, we developed the Genetic REsults daTAbase (GRETA), a relational database that stores in-house association results alongside public reference data and functional annotation resources, facilitating their integration, querying and analysis. Following a requirements-engineering process grounded in user-centred design, we defined product specifications spanning 8 categories, including data upload, a graphical user interface, identity and access management, and data protection. Based on these requirements, we evaluated commercial database solutions and selected a vendor to implement them. The resulting platform provides a user-friendly interface for interactive querying and visualisation, making large-scale association results accessible to researchers without programming skills, and links every result to its underlying data and analysis parameters, supporting reproducibility and traceability. We publish the product requirements, the relational schema and the list of functionalities so that the system can be reproduced elsewhere. GRETA offers a secure, multi-user solution for exploring genetic association results and their functional annotation at scale.

BMC Bioinformatics
Universität Hamburg (DE), University Medical Center Hamburg-Eppendorf (DE), German Centre for Cardiovascular Research (DE), University of Lübeck (DE), University of KwaZulu-Natal (ZA)
Openalex Percentile: Top 21%
Genomics and Phylogenetic Studies
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