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Updated: Jun 6, 2026

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
Published on: June 13, 2025
Theory and practice in biomedical informatics: a framework for discovery
William W Stead1,2, Constantin F Aliferis3,4, Lisa Bastarache1
1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37203, United States.
Objective:
Clarify disciplinary foundations and internal structure of biomedical informatics.
Methods:
We analyze BMI's emergence at disciplinary intersections and map its internal structure across 4 domains: theory and practice of knowledge discovery, knowledge representation and reasoning, knowledge architecture, and knowledge-driven transformation. We compare BMI with mathematics, computer science, biostatistics, and biomedical engineering, and illustrate emergent characteristics through a precision medicine example.
Results:
BMI's distinctive contribution-elucidating the structure of biomedical knowledge and developing methods to discover, preserve, and make knowledge actionable-requires strength across all 4 domains. BMI developed these domains pragmatically: building systems, extracting principles, and formalizing theories. The discipline must now complement empirical approaches with rigorous theoretical work: assessing adequacy of existing theories, identifying gaps, and orchestrating collaborative development.
Conclusions:
BMI creates emergent capabilities across disciplines. As biomedicine becomes increasingly complex, BMI must strengthen its theoretical foundations while demonstrating transformative potential of knowledge spanning biological scales and time.
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