Work

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

Year: 2025

Type: article

Abstract: 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.

Source: JAMA Network Open

DOI: 10.1001/jamanetworkopen.2025.28538

Authors: Cathy Shyr, Thomas A. Cassini, Rory J. Tinker, Kevin W. Byram, Peter J. Embí, Lisa Bastarache, Josh F. Peterson, Hua Xu, Rizwan Hamid, Undiagnosed Diseases Network

Institutions: Vanderbilt University, Vanderbilt University Medical Center, Yale University

Language: English

Topic: Artificial Intelligence in Healthcare and Education

Subfield: Health Informatics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,000

Funder: U.S. National Library of Medicine

OpenAlex ID: W4413418364

FWCI: 3.673

Cites: 6

Cited by: 18

Related to: 10