arXiv AI

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.

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
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 AI
Jul 14

Information-seeking failures of large language models in agentic clinical reasoning

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
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
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 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
Aug 3

Reasoning in Real World Clinical Care: Why Large Language Models Are Not Yet Safe for Autonomous Clinical Decision Support

arXiv:2607. 28677v1 Announce Type: new Abstract: LLM now pass medical licensing examinations and, in curated cases, can rival physicians at diagnostic reasoning.

By Shayndhan Sivanathan, Shravan Nageswaran, Mehdi Zadem, Ryaan Sultan, Nicolas von Mallinckrodt, Max Solovyev, Alexey Matyushkin, Sumon Sadhu, Gabriele C DeLuca, Sanjeeva Jeyaretna, James Hillis, Manoj Ramachandran, Prakash Jayakumar