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Rare diseases affect over 300 million individuals worldwide, yet timely and accurate diagnosis remains an urgent challenge. Patients often endure a prolonged diagnostic odyssey exceeding five years, marked by repeated referrals,…

Computation and Language · Computer Science 2026-02-17 Weike Zhao , Chaoyi Wu , Yanjie Fan , Xiaoman Zhang , Pengcheng Qiu , Yuze Sun , Xiao Zhou , Yanfeng Wang , Xin Sun , Ya Zhang , Yongguo Yu , Kun Sun , Weidi Xie

Computational drug repurposing for rare diseases is especially challenging when no prior associations exist between drugs and target diseases. Therefore, knowledge graph completion and message-passing GNNs have little reliable signal to…

Artificial Intelligence · Computer Science 2025-10-17 Lang Qin , Zijian Gan , Xu Cao , Pengcheng Jiang , Yankai Jiang , Jiawei Han , Kaishun Wu , Jintai Chen

Clinical diagnosis is a highly specialized discipline requiring both domain expertise and strict adherence to rigorous guidelines. While current AI-driven medical research predominantly focuses on knowledge graphs or natural text…

Machine Learning · Computer Science 2025-12-12 Haolin Li , Tianjie Dai , Zhe Chen , Siyuan Du , Jiangchao Yao , Ya Zhang , Yanfeng Wang

Clinical decision-making in radiology increasingly benefits from artificial intelligence (AI), particularly through large language models (LLMs). However, traditional retrieval-augmented generation (RAG) systems for radiology question…

This technical report details a novel approach to combining reasoning and retrieval augmented generation (RAG) within a single, lean language model architecture. While existing RAG systems typically rely on large-scale models and external…

The integration of Large Language Models (LLMs) into healthcare is constrained by knowledge limitations, hallucinations, and a disconnect from Evidence-Based Medicine (EBM). While Retrieval-Augmented Generation (RAG) offers a solution,…

Computation and Language · Computer Science 2026-02-03 Qiaoyu Zheng , Yuze Sun , Chaoyi Wu , Weike Zhao , Pengcheng Qiu , Yongguo Yu , Kun Sun , Jian Zhang , Yanfeng Wang , Ya Zhang , Weidi Xie

Rare diseases affect hundreds of millions worldwide, yet diagnosis often spans years. Convectional pipelines decouple noisy evidence extraction from downstream inferential diagnosis, and general/medical large language models (LLMs) face…

Reasoning language models have demonstrated remarkable performance on many challenging tasks in math, science, and coding. Choosing the right reasoning model for practical deployment involves a performance and cost tradeoff at two key…

Artificial Intelligence · Computer Science 2026-03-12 Nigel Fernandez , Branislav Kveton , Ryan A. Rossi , Andrew S. Lan , Zichao Wang

Medical imaging has revolutionized diagnosis, yet unnecessary procedures are rising, exposing patients to radiation and stress, limiting equitable access, and straining healthcare systems. The American College of Radiology Appropriateness…

Quantitative Methods · Quantitative Biology 2025-10-08 Anni Tziakouri , Filippo Menolascina

Medical vision-language models (VLMs) achieve strong performance in diagnostic reporting and image-text alignment, yet their underlying reasoning mechanisms remain fundamentally correlational, exhibiting reliance on superficial statistical…

Machine Learning · Computer Science 2026-01-27 Weiqin Yang , Haowen Xue , Qingyi Peng , Hexuan Hu , Qian Huang , Tingbo Zhang

Large Language Models (LLMs) have shown promising performance on diverse medical benchmarks, highlighting their potential in supporting real-world clinical tasks. Retrieval-Augmented Generation (RAG) has emerged as a key approach for…

Computation and Language · Computer Science 2025-09-30 Kaishuai Xu , Wenjun Hou , Yi Cheng , Wenjie Li

Cross-domain misinformation detection is challenging, as misinformation arises across domains with substantial differences in knowledge and discourse. Existing methods often rely on single-perspective cues and struggle to generalize to…

Computation and Language · Computer Science 2026-01-09 Zhiwei Liu , Runteng Guo , Baojie Qu , Yuechen Jiang , Min Peng , Qianqian Xie , Sophia Ananiadou

Domain-specific intelligence demands specialized knowledge and sophisticated reasoning for problem-solving, posing significant challenges for large language models (LLMs) that struggle with knowledge hallucination and inadequate reasoning…

Computation and Language · Computer Science 2025-05-20 Zhengren Wang , Jiayang Yu , Dongsheng Ma , Zhe Chen , Yu Wang , Zhiyu Li , Feiyu Xiong , Yanfeng Wang , Weinan E , Linpeng Tang , Wentao Zhang

Language models (LMs) are increasingly being deployed to perform autonomous data analyses. However, their data awareness -- the ability to recognize, reason over, and appropriately handle data artifacts such as missing values, outliers, and…

The clinical adoption of artificial intelligence (AI) in medical diagnostics is critically hampered by its black-box nature, which prevents clinicians from verifying the rationale behind automated decisions. To overcome this fundamental…

Retrieval-Augmented Generation (RAG) lifts the factuality of Large Language Models (LLMs) by injecting external knowledge, yet it falls short on problems that demand multi-step inference; conversely, purely reasoning-oriented approaches…

Large language models (LLMs) have shown promise in medical domains, but their ability to handle specialized neurological reasoning requires systematic evaluation. We developed a comprehensive benchmark using 305 questions from Israeli Board…

Information Retrieval · Computer Science 2025-08-21 Moran Sorka , Alon Gorenshtein , Dvir Aran , Shahar Shelly

In this work, we present our various contributions to the objective of building a decision support tool for the diagnosis of rare diseases. Our goal is to achieve a state of knowledge where the uncertainty about the patient's disease is…

Agentic Retrieval-Augmented Generation (Agentic RAG) has become a widely adopted paradigm for multi-hop question answering and complex knowledge reasoning, where retrieval and reasoning are interleaved at inference time. As reasoning…

Information Retrieval · Computer Science 2026-04-02 Shuguang Jiao , Chengkai Huang , Shuhan Qi , Xuan Wang , Yifan Li , Lina Yao

Explainable Artificial Intelligence (AI) in the form of an interpretable and semiautomatic approach to stage grading ocular pathologies such as Diabetic retinopathy, Hypertensive retinopathy, and other retinopathies on the backdrop of major…

Image and Video Processing · Electrical Eng. & Systems 2022-12-15 Ayushi Raj Bhatt , Rajkumar Vaghashiya , Meghna Kulkarni , Dr Prakash Kamaraj
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