arXiv:2607. 23290v1 Announce Type: new Abstract: Rare diseases collectively affect an estimated 3.
By Xi Chen, Hongru Zhou, Shiyu Feng, Hanyu Zhou, Huahui Yi, Rongsheng Wang, Tiancheng He, Kun Wang, Pingping Liu, Qiankun Li, Sicheng Lin, Huiying Ou, Xiaohong Zheng, Tianying Zang, Zhuohang Wu, Leheng Jiang, Kexin Cao, Wenhan Zhang, ChengYi Li, Zhiyang Wang, Songlin Li, Benyou Wang, Ningbei Yin, Shaoting Zhang, Weili Fu, Jian Li, Kang Li
arXiv:2606. 16149v3 Announce Type: replace Abstract: Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer; off-the-shelf large language models (LLMs) rank the correct disease first in only 35.
By Minh-Ha Nguyen, Erica Gray, Bryce A. Schuler, Kevin W. Byram, Chih-Ting Yang, Fan Ma, Hua Xu, Wu-Chen Su, Chao Yan, Wei-Qi Wei, Adam Wright, Lisa Bastarache, Josh Peterson, Lingyao Li, Siyuan Ma, Undiagnosed Diseases Network, Rizwan Hamid, Thomas A. Cassini, Cathy Shyr
arXiv:2607. 00147v1 Announce Type: new Abstract: Rare disease differential diagnosis is a critical yet arduous clinical task, requiring physicians to identify precise phenotypes from complex, unstructured patient symptoms and execute intricate reasoning within a vast search space.
By Deyang Jiang, Haoran Wu, Ziyi Wang, Yiming Rong, Yunlong Zhao, Ye Jin, Bo Xu
arXiv:2505. 14107v5 Announce Type: replace-cross Abstract: The emergence of groundbreaking large language models capable of performing complex reasoning tasks holds significant promise for addressing various scientific challenges, including those arising in complex clinical scenarios.
By Yakun Zhu, Zhongzhen Huang, Linjie Mu, Yutong Huang, Wei Nie, Jiaji Liu, Shaoting Zhang, Pengfei Liu, Xiaofan Zhang
arXiv:2606. 24510v1 Announce Type: new Abstract: Rare diseases affect millions of individuals worldwide, yet timely diagnosis remains a major public health challenge due to scarcity of specialized clinical expertise.
By Haichao Chen, Songchi Zhou, Zhengyun Zhao, Shikai Hu, Xianghong Jin, Hongwei Ji, Li He, Shuli Li, Yiming Qin, Xin Tan, Runfeng Shi, Yih Chung Tham, Jiaye Zhu, Ye Li, Ye Jin, Longhao Cao, Dawei Li, Honghan Wu, Hongqiu Gu, Guanqiao Li, Tudor Groza, Chunying Li, Dian Zeng, Weihong Yu, Gareth Baynam, Saumya Shekhar Jamuar, Min Shen, Shuyang Zhang, Bin Sheng, Sheng Yu, Tien Yin Wong
arXiv:2607. 22555v1 Announce Type: new Abstract: Medical diagnosis is a multi-stage process: extract facts, consult knowledge, generate a differential analysis, and select the best diagnosis with explanations.
By Mahmood Bayeshi, Veysel Kocaman, Muhammed Ali Naqvi, Yigit Gul, David Talby