arXiv AI

RareDxR1: Autonomous Medical Reasoning for Rare Disease Diagnosis Beyond Human Annotation

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.

arXiv AI
Jun 24

A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trial

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 AI
Aug 18

DiagnosisArena: Benchmarking Diagnostic Reasoning for Large Language Models

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 AI
Jul 28

RareLens: Towards End-to-End Rare Disease Care via Aligning Divergent Large Language Model Reasoning

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 AI
Sep 10

Teaching agentic AI to generalize expert diagnostic reasoning in rare diseases

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 AI
Aug 25

ClinicalGPT-R1: Pushing reasoning capability of generalist disease diagnosis with large language model

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 AI
Aug 25

Teaching LLMs How ICU Physicians Approach Clinical Reasoning Through OMOP-Aligned Retrieval Improves Reasoning Across Clinical Domains

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 AI
Aug 13

Teaching agentic AI to learn expert reasoning for rare disease diagnosis

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