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Leveraging Large Language Models and Knowledge Graphs for Disease Theory Exploration and Causal Analysis

Abstract

Clinical researchers need timely, evidence-supported overviews that clarify the underlying mechanisms and pathways of disease development. Manual curation of causal mechanisms is highly time-consuming and increasingly infeasible due to the exponential expansion of the biomedical literature. This paper introduces KnowDisease - an approach to automatically extracting disease theory mechanisms and causal relationships from biomedical literature using Large Language Models, exploiting Chain-of-Thought (CoT) prompting with evidence traceability and constructing Knowledge Graph-based disease theories for causal analysis. A proof-of-concept application is implemented based on this approach, enabling researchers to visualize complex disease pathways and causal relationships, navigate interconnected biological mechanisms and identify evidence for various disease theories based on constructed knowledge graphs. The initial results demonstrate how LLM-assisted tools can advance understanding of disease mechanisms and potentially accelerate biomedical research.
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Category

Academic chapter

Language

English

Author(s)

Affiliation

  • SINTEF Digital / Sustainable Communication Technologies
  • SINTEF Digital / Software Engineering, Safety and Security
  • Bucharest University of Economic Studies
  • OsloMet - Oslo Metropolitan University

Date

10.09.2026

Year

2026

Publisher

IEEE (Institute of Electrical and Electronics Engineers)

Book

Proceedings of the 2025 IEEE/WIC International Conference on Web Intelligence and Intelligent Agent Technology (WI-IAT), London, United Kingdom, 15-18 November 2025

ISBN

9798331574116

Page(s)

593 - 599

View this publication at Norwegian Research Information Repository