The paper presents an autonomous AI agent that combines ReAct and Retrieval-Augmented Generation to classify the severity of genetic diseases using 10,211 Human Phenotype Ontology terms. It applies ACMG severity guidelines and ACOG quality-of-life criteria, retrieving PubMed literature to produce interpretable reasoning chains and verify claims. The agent achieved 93.55% accuracy on phenotype-level classification and identified 3,283 autosomal recessive gene pairs with severe presentations, with 95.2% concordance in external validation.
By Tohid Ghasemnejad, Ahmadreza Argha, Mark Grosser, John Wang, Min Yang, Thantrira Porntaveetus, Tony Roscioli, Nigel H. Lovell, Mahmoud Aarabi, Hamid Alinejad-Rokny
arXiv:2609.01202v1 Announce Type: cross
Abstract: Clinical trials are essential for advancing cancer care and drug development, but many fail because of insufficient patient enrollment. While there i...
By Yin Fang, Qiao Jin, Shubo Tian, Lauren He, Maya Geer, Noor Naffakh, Ryan Huu-Tuan Nguyen, Zifeng Wang, Jimeng Sun, Charalampos S. Floudas, James L. Gulley, Kamilia Moalem, Catarina Martins Maia, Amanda Nottke, Juan W. Valle, Melinda Bachini, Lourdes Rocha-Nussbaum, Kari Ramage, Nikita Curry, Megan Barnes, Mandy Mansaray, Darlene Gabeau, Craig E. Grossman, Heath Skinner, Michael Burczynski, NIH-TrialBench Consortium, Zhiyong Lu
arXiv:2512. 01241v4 Announce Type: replace-cross Abstract: Large language models (LLMs) and medical AI tools 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
OpenMTB‑Audit is an open‑source benchmark that tests large language models on 500 synthetic non‑small cell lung cancer cases, covering five adversarial error categories and four safety labels: Supported, Partially Supported, Unsupported, and Insufficient Information. The study found that all eight tested LLMs over‑refused Partially Supported recommendations, collapsing labels to achieve high safety scores. A deterministic seven‑module framework, MTB‑AuditAgent, was introduced to reduce over‑refusal to 6.7% and reach 91.2% accuracy, while an oncologist annotation study highlighted disagreement around the boundary between information sufficiency and treatment optimization.
By Negin Ashrafi, Jia Luo, Stacey M. Frumm, Roxana Daneshjou
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. 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