Xiaohao Mao, Yu Huang, Ye Jin, Lun Wang, Xuanzhong Chen, Honghong Liu, Xinglin Yang, Haopeng Xu, Xiaodong Luan, Ying Xiao, Siqin Feng, Jiahao Zhu, Xuegong Zhang, Rui Jiang 0001, Shuyang Zhang, Ting Chen. A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs. npj Digit. Medicine, 8(1), 2025. [doi]
Abstract is missing.