Genetic & Genomic Medicinenpj Digital MedicinePeer-reviewed
Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis
Minh-Ha Nguyen, Chih-Ting Yang, Thomas A. Cassini…·Cathy Shyr
This paper evaluates the diagnostic accuracy of large language models for rare diseases through a systematic review and meta-analysis, finding substantial variation in performance across benchmarks and high risk of bias in all studies.
DOI 10.1038/s41746-026-03109-z