Integration, Cataloguing and Management of Biobanking and Clinical Data Using FAIR Genomes Metadata Schema

Varování

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KACOVÁ Radoslava HOUFEK Tomáš HORKÝ Ondřej TOMÁŠIK Radovan KURÁŇ Jan RŮŽIČKA Michal HRSTKA Roman NOVÁČEK Vít DUDOVÁ Zdenka

Rok publikování 2025
Druh Článek v odborném periodiku
Časopis / Zdroj Data Intelligence
Fakulta / Pracoviště MU

Fakulta informatiky

Citace
www https://www.sciengine.com/DI/doi/10.3724/2096-7004.di.2025.0005
Doi http://dx.doi.org/10.3724/2096-7004.di.2025.0005
Klíčová slova FAIR data point; FAIR principles; Metadata; Interoperability; Secondary use of healthcare data; Hospital-generated data; Genomic data; Data sharing
Popis 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.

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