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:2511. 09026v2 Announce Type: replace-cross Abstract: Whole-genome sequencing (WGS) has revealed numerous non-coding short variants whose functional impacts remain poorly understood.
By Pratik Dutta, Matthew Obusan, Rekha Sathian, Max Chao, Pallavi Surana, Nimisha Papineni, Yanrong Ji, Zhihan Zhou, Han Liu, Alisa Yurovsky, Ramana V Davuluri
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
BaseCamp is an agentic AI framework that automates the decision layer of DNA sequencing pipelines by deploying six specialized AI agents for tasks such as sample intake, quality control, alignment, variant calling, annotation, cross‑stage monitoring, and reporting. The agents rely on established bioinformatics tools for actual sequence analysis, while using fine‑tuned, domain‑specialized large language models to select, configure, and interpret these tools’ outputs, ensuring reproducibility and local data privacy. Evaluation demonstrates that the agents’ configurations align with expert practice, provide an explicit filtering ledger for traceability, and detect anomalies that traditional monitoring may miss.
By Eranga Bandara, Xueping Liang, Asanga Gunaratna, Tharaka Hewa, Abdul Rahman, Peter Foytik, Safdar H. Bouk, Sachini Rajapakse, Isurunima Kularathna, Pramoda Karunarathna, Chalani Rajapakse, Ng Wee Keong, Kasun De Zoysa, Amin Hass, Wathsala Herath, Ross Gore, Ravi Mukkamala, Nihal Siriwardanagea, Gihan Siriwardanagea, Aruna Withanage, Nilaan Loganathan, Sachin Shetty
arXiv:2601. 21800v4 Announce Type: replace Abstract: We introduce BioAgent Bench, an evaluation suite designed for measuring the performance and robustness of AI agents in common bioinformatics tasks.
By Dionizije Fa, Marko Culjak, Bruno Pandza, Mateo Cupic
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. 22555v1 Announce Type: new Abstract: Medical diagnosis is a multi-stage process: extract facts, consult knowledge, generate a differential analysis, and select the best diagnosis with explanations.
By Mahmood Bayeshi, Veysel Kocaman, Muhammed Ali Naqvi, Yigit Gul, David Talby
arXiv:2606. 16337v1 Announce Type: new Abstract: Predictive modeling for clinical tabular data is central to clinical decision support and therefore requires not only strong predictive performance but also transparent decision logic.
By Wei Xu, Ke Yang, Gang Luo, Keli Zheng, Lingyan Hu, Jing Wang, Kefeng Li
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: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:2605. 09366v3 Announce Type: replace Abstract: Transforming neuroimaging data into clinically actionable biomarkers is a knowledge-intensive and labor-intensive process.
By Keqi Han, Songlin Zhao, Yao Su, Xiang Li, Yixuan Yuan, Lifang He, Carl Yang
arXiv:2606. 28362v1 Announce Type: cross Abstract: Systematic reviews and meta-analyses (SR/MA) remain the gold standard for evidence synthesis, yet completing one typically requires 67 weeks and substantial expert effort.
By Yen-Hsun Huang (Department of Education, Taipei Veterans General Hospital, Taipei, Taiwan), Yu-Shiou Lin (Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan)