A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs.
Mao X, Huang Y, Jin Y, Wang L, Chen X, Liu H, Yang X, Xu H, Luan X, Xiao Y, Feng S, Zhu J, Zhang X, Jiang R, Zhang S, Chen T.
Mao X, et al. Among authors: jiang r.
NPJ Digit Med. 2025 Jan 28;8(1):68. doi: 10.1038/s41746-025-01452-1.
NPJ Digit Med. 2025.
PMID: 39875532