Comparative analysis of large language models on rare disease identification

Abstract Diagnosing rare diseases is challenging due to their low prevalence, diverse presentations, and limited recognition, often leading to diagnostic delays and errors. This study evaluates the effectiveness of multiple large language models (LLMs) in identifying rare diseases, comparing their p...

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Bibliographic Details
Main Authors: Guangyu Ao, Min Chen, Jing Li, Huibing Nie, Lei Zhang, Zejun Chen
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03656-w
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