Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective

The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2023-08, Vol.18 (1), p.1-253, Article 253
Main Authors: Gisslander, Karl, Mohammad, Aladdin J, Vaglio, Augusto, Little, Mark A
Format: Article
Language:English
Subjects:
Clinical trials
Computer and Information Science
Computer Science
Data integration
Data- och informationsvetenskap (Datateknik)
Datavetenskap (datalogi)
FAIRification
Information management
Information services
Integration
Interoperability
Letter to the Editor
Medical research
Medicine, Experimental
Natural Sciences
Naturvetenskap
Online information services
Online services
Ontology
Rare disease
Rare diseases
Registry
Semantic web
Semantics
Vasculitis
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Summary:The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare disease experts, leading to limited involvement by domain expertise in the data integration process. Here, we propose a data integration framework starting from the perspective of the clinical researcher, allowing for purposeful rare disease registry integration driven by clinical research questions.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-023-02841-z