arXiv AI

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.

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
1d ago

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 2

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.

By Deyang Jiang, Haoran Wu, Ziyi Wang, Yiming Rong, Yunlong Zhao, Ye Jin, Bo Xu
arXiv AI
6d ago

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
arXiv Machine Learning
Aug 7

Clinician input steers AI toward accurate and harmful recommendations

arXiv:2603. 14158v2 Announce Type: replace-cross Abstract: Large language models (LLMs) are entering clinical workflows, yet evaluations rarely assess how clinician reasoning shapes model behavior during clinical interactions.

By Ivan Lopez, Selin S. Everett, Bryan J. Bunning, April S. Liang, Dong Han Yao, Shivam C. Vedak, Kameron C. Black, Sophie Ostmeier, Stephen P. Ma, Emily Alsentzer, Jonathan H. Chen, Akshay S. Chaudhari, Eric Horvitz
arXiv AI
Jul 10

A safety-oriented hypothetico-deductive framework for AI-assisted differential diagnosis

arXiv:2607. 08038v1 Announce Type: new Abstract: Diagnostic error is a major threat to patient safety, yet current large language model (LLM) systems often treat diagnosis as a one-shot prediction task, lacking safeguards against missed high-risk alternatives or rigorous verification of their reasoning.

By Fan Ma, Mauro Giuffr\`e, Donald Wright, Kent McCann, Mark Iscoe, Lingfei Qian, Mingyang Jiang, Chi Wing Ng, Na Hong, Huan He, Cathy Shyr, Qingyu Chen, Lee Schwamm, Lucila Ohno-Machado, Hua Xu
arXiv AI
Jul 29

Aletheia: An Offline-First Clinical Decision Support System for Differential Diagnosis in Low-Resource Healthcare Settings

arXiv:2607. 24814v1 Announce Type: new Abstract: Access to specialist clinical expertise remains severely limited across sub-Saharan Africa, where physician-to-patient ratios can fall below 1:25,000 in rural settings.

By Joseph Walusimbi, Ann Move Oguti, Abubakhari Sserwadda, Precious Boss Kasasira, Charles Brian Okoboi
arXiv AI
Jun 17

First, do NOHARM: towards clinically safe large language models

arXiv:2512. 01241v3 Announce Type: replace-cross Abstract: Large language models (LLMs) are routinely used by physicians and patients for medical advice, yet their clinical safety profiles remain poorly characterized.

By David Wu, Fateme Nateghi Haredasht, Saloni Kumar Maharaj, Priyank Jain, Jessica Tran, Matthew Gwiazdon, Arjun Rustagi, Jenelle Jindal, Jacob M. Koshy, Vinay Kadiyala, Anup Agarwal, Bassman Tappuni, Brianna French, Sirus Jesudasen, Christopher V. Cosgriff, Rebanta Chakraborty, Jillian Caldwell, Susan Ziolkowski, David J. Iberri, Robert Diep, Rahul S. Dalal, Kira L. Newman, Kristin Galetta, J. Carl Pallais, Nancy Wei, Kathleen M. Buchheit, David I. Hong, Vartan Pahalyants, Ernest Y. Lee, Allen Shih, Tamara B. Kaplan, Vishnu Ravi, Sarita Khemani, Thomas A. Buckley, April S. Liang, Daniel Shirvani, Advait Patil, Nicholas Marshall, Kanav Chopra, Joel Koh, Adi Badhwar, Anastasia Perez, Austin J. Schoeffler, Mahbuba Tusty, Chase M. Walton, Liam G. McCoy, David J. H. Wu, Yingjie Weng, Sumant Ranji, Kevin Schulman, Nigam H. Shah, Jason Hom, Arnold Milstein, Arjun K. Manrai, Adam Rodman, Jonathan H. Chen, Ethan Goh