Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network

This cohort study assesses whether large language models (LLMs) can identify the final diagnosis, based on available clinical information, for patients referred to the Undiagnosed Diseases Network.

Corresponding Author: Rizwan Hamid, MD, PhD, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children’s Way, Suite 2404, Nashville, TN 37232 (rizwan.hamid@vumc.org).

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