When Does Retrieval Beat Direct LLM Diagnosis in Rare Disease? An Empirical Study of Ontology Coverage

Mohamed Elmofty, Ulf Leser. When Does Retrieval Beat Direct LLM Diagnosis in Rare Disease? An Empirical Study of Ontology Coverage. In Dina Demner-Fushman, Sophia Ananiadou, Kirk Roberts, Junichi Tsujii, editors, Proceedings of the 25th Workshop on Biomedical Natural Language Processing, BioNLP@ACL 2026, San Diego, California, USA, July 3-4, 2026. pages 508-518, Association for Computational Linguistics, 2026. [doi]

Abstract

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