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:2606. 16149v1 Announce Type: new Abstract: Most medical AI systems improve by scaling additional machinery: more fine-tuning data, more agents, and/or larger retrieval databases.
By Minh-Ha Nguyen, Erica Gray, Chih-Ting Yang, Rizwan Hamid, Lingyao Li, Siyuan Ma, 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: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. 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
arXiv:2607. 10275v1 Announce Type: new Abstract: Large language models achieve high scores on medical knowledge assessments, yet clinical reasoning requires actively deciding what to investigate under uncertainty.
By Krischan Braitsch, Laura K. Schmalbrock, Theresa Weltermann, Andrew F. Berdel, Isabella Miller, Kai Tran, Michael Heider, Sabrina Kraus, Florian Bassermann, Jacqueline Lammert, Sebastian Ziegelmayer, Marcus Makowski, Lisa C. Adams, Keno K. Bressem