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Updated: Apr 5, 2026

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
Published on: June 13, 2025
An ontology driven clinical evidence service providing diagnostic decision support in family practice
1HRB Centre for Primary Care Research, Royal College of Surgeons in Ireland, Dublin, Ireland.
Abstract:
Formulation of a working diagnostic hypothesis in family practice requires consideration of many differential diagnoses associated with any presenting patient complaint. There follows a process of refinement of the differentials to consider, through ruling in or out each candidate differential based on the confirmed presence or absence of diagnostic cues elicited during patient consultation. The patient safety implications of diagnostic error are potentially severe for patient and clinician. This paper describes a clinical evidence service supporting this diagnostic process. It allows decision support consumers to provide coded evidence-based recommendations to assist with diagnostic hypothesis formulation, integrated with an EHR in primary care. The solution implements ontology models of evidence accessible to consumers as a web service using open source components and standards. An implementation example is described that consumes the service to drive a diagnostic decision support tool developed for the TRANSFoRm project.
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