ArticleAMIA ... Annual Symposium proceedings. AMIA Symposium2024
RDguru: An Intelligent Agent for Rare Diseases.
Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Artificial Intelligence in Haematologic Diagnostics: Current Applications and Future Perspectives.Acta haematologica · 2026Review
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Authors and funding
4 authors.
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Abstract
Large language models (LLMs) have shown great promise in clinical medicine, but their adoption in real-world settings has been limited by their tendency to generate incorrect and sometimes even toxic statements. This study presents a reliable rare disease intelligent agent called RDguru, which incorporates authoritative and reliable knowledge sources and tools into the reasoning and response of LLMs. In addition to answering questions about rare diseases more accurately, RDguru can conduct medical consultations to provide differential diagnosis decision support for clinical users. The DQN-based multi-source fusion diagnostic model integrates three diagnostic recommendation strategies, GPT-4, PheLR, and phenotype matching. Testing on 238 real rare disease cases showed that RDguru's top 10 list of recommended diagnoses was able to recall 69.1% of real diagnoses, the top 5 recommended diagnoses were able to recall 63.6% of real diagnoses, and the top ranked diagnosis was able to achieve an accuracy rate of 41.9%.
Indexed as
Identifiers
40417483PMC12099370What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.