A clinician-audited diagnostic policy plus public tools lets a single unmodified LLM reach high phenotype-first rare-disease Recall@1 and modestly beat baselines on real UDN patients.
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Amberger, Carol A
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LiteOdyssey: A Lightweight Reasoning AI Agent for Interpretable Rare-Disease Diagnosis
A clinician-audited diagnostic policy plus public tools lets a single unmodified LLM reach high phenotype-first rare-disease Recall@1 and modestly beat baselines on real UDN patients.