arXiv:2609.35549v2 Announce Type: replace
Abstract: Rare-disease diagnosis is a long-tail reasoning problem: phenotypes are incomplete, individual disorders are sparsely documented, and relevant evid...
By Bo Zhang, Yuchen Wang, Dongbai Li, Matthew Yu Heng Wong, Qingkai Zeng, Lijun Wang, Tien-Yin Wong, Peng Cui, Tianyu Liu
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: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: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:2606.16149v5 Announce Type: replace
Abstract: Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer. Large language models rank the correct disease first i...
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 F. Peterson, Lingyao Li, Siyuan Ma, Undiagnosed Diseases Network, Rizwan Hamid, Thomas A. Cassini, Cathy Shyr
arXiv:2608.21948v1 Announce Type: new
Abstract: Complex clinical reasoning requires models to update diagnostic hypotheses as new evidence emerges and to coordinate different medical specialities und...
By Sike Xiang, Shuang Chen, Qian sun, Jia Cheng, Yusi Wei, Amir Atapour-Abarghouei
ClinicalGPT‑R1 is a reasoning‑enhanced generalist large language model designed for disease diagnosis. It was trained on 20,000 real‑world clinical records and uses diverse training strategies to improve diagnostic reasoning. In benchmarks, it outperforms GPT‑4o on Chinese diagnostic tasks and matches GPT‑4 performance in English, demonstrating superior disease‑diagnosis capabilities.
By Wuyang Lan, Wenzheng Wang, Changwei Ji, Guoxing Yang, Yongbo Zhang, Xiaohong Liu, Luonan Chen, Shengge Li, Song Wu, Guangyu Wang
arXiv:2608.22622v1 Announce Type: cross
Abstract: Clinical decision-making relies on identifying relevant patient information to guide diagnosis and treatment, a challenge that is especially difficul...
By Miguel Contreras, Scott Siegel, Subhash Nerella, Jessica Sena, Jiaqing Zhang, Heng Sun, Hruday Tej Akkaladevi, Peiyu Lu, Jordan Rosen, Sumit Kapoor, Sasank Desaraju, Grace R. Thompson, Jacob Purcell, Michael Petrauskis, Philip KW. Hong, Meghan Brennan, Sarah Chrabaszcz, Tierra Smith, Ronnie Ren, Michel S. Kabbash, Ceyhun Haziroglu, Rushi Patel, Gabriel Gomez, Charlotte Chaiklin, Randy Leung, Kenneth N. John, Whitman Wiggins, Philip Kayser, Vincent Bird, Maria Bruzzone, Tyler J. Loftus, Azra Bihorac, Parisa Rashidi
arXiv:2609.24480v1 Announce Type: cross
Abstract: Deploying Large Language Models (LLMs) in healthcare requires robust performance across two complementary dimensions - diagnostic reasoning: the conv...
By Kalash Shah, Kunal Singh, Snehan J, Shreyas Singh
arXiv:2607. 15280v1 Announce Type: new Abstract: Sequential diagnosis requires balancing diagnostic accuracy against resource costs through iterative information gathering.
By Shaoting Tan, Ning Liu, Yuntao Du, Shuyue Wei, Wu Shuai, Qian Li, Yanyu Xu, Wei Zhang, Lizhen Cui, Haitao Yuan
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