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