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

Abstract

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.

Keywords

• Rare disease
• Semantic web
• FAIRification
• Data integration
• Vasculitis
• Registry