Integration, Cataloguing and Management of Biobanking and Clinical Data Using FAIR Genomes Metadata Schema
Year: 2025
Type: article
Abstract: In the dynamic environment of hospitals, valuable real-world data often remain underutilised despite their potential to revolutionize cancer research and personalised medicine. This study explores the challenges and opportunities in managing hospital-generated data, particularly within the Masaryk Memorial Cancer Institute (MMCI) in Brno, Czech Republic. Utilizing Next-Generation Sequencing (NGS) technology, MMCI generates substantial volumes of genomic data. Due to inadequate curation, these data remain difficult to integrate with clinical records for secondary use (such as personalised treatment outcome prediction and patient stratification based on their genomic profiles). This paper proposes solutions based on the FAIR principles (Findability, Accessibility, Interoperability, and Reusability) to enhance data sharing and reuse. The primary output of our work is the development of an automated pipeline that continuously processes and integrates NGS data with clinical and biobank information upon their creation. It stores the data in a special secured repository for sensitive data in a structured form to ensure smooth retrieval.
Source: Data Intelligence
Authors: Radoslava Kacová, Tomáš Houfek, Ondřej Horký, Jan Kuráň, Radovan Tomášik, Michal Růžička, Roman Hrstka, Vít Nováček, Zdenka Dudová
Institutions: Masaryk University, Masaryk Memorial Cancer Institute
Language: English
Subfield: Information Systems
Field: Computer Science
Domain: Physical Sciences
Open Access status: diamond
Funder: European Commission
OpenAlex ID: W4407955706
