Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective
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Peer-reviewed
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Authors
Gisslander, Karl https://orcid.org/0000-0003-1915-2656
Mohammad, Aladdin J
Vaglio, Augusto
Little, Mark A
Abstract
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.
Description
Acknowledgements: Not applicable.
Keywords
FAIRification, Vasculitis, Semantic web, Data integration, Rare disease, Registry
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Publisher
BioMed Central
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Sponsorship
HORIZON EUROPE Reforming and enhancing the European Research and Innovation system (COFUND-EJP N° 825575)
Crafoordska Stiftelsen (20220623)
Vetenskapsrådet (2019-00263)
Crafoordska Stiftelsen (20220623)
Vetenskapsrådet (2019-00263)