Related Experiment Video
Updated: Jan 18, 2026

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
Published on: June 13, 2025
Scientific Evidence Based Knowledge Graph in Rare Diseases
Qian Zhu1, Ruizheng Liu2, Gunjan Vatas3
1Division of Pre-Clinical Innovation, National Center for Advancing Translational Sciences, Rockville, USA.
None:
Rare diseases are naturally associated with low prevalence rate, which raises a big challenge due to less data available for supporting preclinical and clinical studies. Therefore, it is critical to fully utilize the accumulated scientific publications in rare diseases over years, in order to access full spectrum of scientific research and enable relevant scientific evidence extraction and generation. In this study, we obtained rare disease related PubMed articles, extracted multiple types of biomedical information, and semantically presented the data in a knowledge graph, which is hosted in Neo4j based on a predefined data model to support further rare disease research.
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