Article
Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports.
American journal of medical genetics. Part A - 1 Feb 2025
Young Cameron C, Enichen Ellie, Rivera Christian, Auger Corinne A, Grant Nathan, Rao Arya, Succi Marc D
Abstract excerpt
Accurately diagnosing rare pediatric diseases frequently represent a clinical challenge due to their complex and unusual clinical presentations. Here, we explore the capabilities of three large language models (LLMs), GPT-4, Gemini Pro, and a custom-built LLM (GPT-4 integrated with the Human Phenotype Ontology [GPT-4 HPO]), by evaluating their diagnostic performance on 61 rare pediatric disease case reports. The...
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