The article presents a new semantic model for representing scientific evidence, specifically tailored to genetics, that extends existing standards by adding fine‑grained, domain‑specific structure. It aligns with FHIR Evidence and SEPIO, incorporates a compact vocabulary validated by SHACL, and was tested in a human‑AI annotation pilot on six genetics papers, producing 28 evidence items and 95 source‑anchored assertions. The authors argue that this model advances trustworthy, AI‑ready infrastructure for variant interpretation by providing a reference data model and validation schema for genetic evidence.
By Michael Bouzinier, Dmitry Etin
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: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: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
The paper introduces a retrieval‑augmented multi‑agent framework that automatically generates instance‑specific evaluation rubrics for medical language models. By retrieving authoritative medical evidence, decomposing it into atomic facts, and combining these with user interaction constraints, the system produces fine‑grained criteria that outperform GPT‑4o on HealthBench and LLMEval‑Med. The generated rubrics also guide response refinement, improving medical LLM output quality by 9.2%.
By Yinzhu Chen, Abdine Maiga, Hossein A. Rahmani, Emine Yilmaz
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
The paper introduces BioCheck Agent, an LLM-based system that generates structured biomedical fact‑checking reports using agentic search and a reinforcement‑learning framework called EG‑GRPO. Unlike prior methods that output only supported or refuted labels, BioCheck Agent synthesizes conclusions with retrieved evidence from PubMed, employing advanced Boolean search operators. Experiments show that, compared to the base Qwen3.5‑4B model, BioCheck Agent improves label prediction accuracy on SciFact by 9.95 %, raises evidence quality by 3.7 %, and reduces hallucinations by 19.63 %.
By Jiongxiao Wang, Dingli Ma, Chaoqun Ni
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: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:2603. 22327v2 Announce Type: replace-cross Abstract: Systematic literature reviews (SLRs) are a demanding and high-stakes form of scientific knowledge synthesis that remains underspecified as an evaluation setting for large language models (LLMs).
By Shreyansh Padarha, Ryan Othniel Kearns, Tristan Naidoo, Lingyi Yang, {\L}ukasz Borchmann, Piotr B{\L}aszczyk, Christian Morgenstern, Ruth McCabe, Sangeeta Bhatia, Philip H. Torr, Jakob Foerster, Scott A. Hale, Thomas Rawson, Anne Cori, Elizaveta Semenova, Adam Mahdi
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
HPOQuest is a training‑free framework that improves rare‑disease diagnosis by actively acquiring additional phenotypes. Starting from a few observed patient traits, it maintains a probabilistic ranking of possible diseases and iteratively selects follow‑up questions that are most informative. When clinicians confirm new phenotypes, the disease ranking is updated, and the set of candidate questions is refined, leading to significant gains—up to 30% in Recall@1 and 45% in Recall@5—across four benchmark cohorts.
By Kamilia Zaripova, Nassir Navab, Azade Farshad, Annalisa Marsico