Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network
Cathy Shyr, Thomas Cassini, Rory J. Tinker, Kevin Byram, Peter J. Embí, Lisa Bastarache, Josh F. Peterson, Hua Xu, Rizwan Hamid, Undiagnosed Diseases Network
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.
Topics & Concepts
CohortDiseaseMedicineIntensive care medicineRare diseasePediatricsPathologyArtificial Intelligence in Healthcare and EducationGenomics and Rare DiseasesMachine Learning in Healthcare