English
Related papers

Related papers: An Agentic System for Rare Disease Diagnosis with …

200 papers

Medical question answering (QA) is a reasoning-intensive task that remains challenging for large language models (LLMs) due to hallucinations and outdated domain knowledge. Retrieval-Augmented Generation (RAG) provides a promising…

Computation and Language · Computer Science 2025-05-01 Xuanzhao Dong , Wenhui Zhu , Hao Wang , Xiwen Chen , Peijie Qiu , Rui Yin , Yi Su , Yalin Wang

Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…

Quantitative Methods · Quantitative Biology 2020-04-13 Thomas Gaudelet , Noel Malod-Dognin , Jon Sanchez-Valle , Vera Pancaldi , Alfonso Valencia , Natasa Przulj

Agentic AI represents a major shift in how autonomous systems reason, plan, and execute multi-step tasks through the coordination of Large Language Models (LLMs), Vision Language Models (VLMs), tools, and external services. While these…

Large-scale telecom and datacenter infrastructures rely on multi-layered service and resource models, where failures propagate across physical and logical components and affect multiple customers. Traditional approaches to root cause…

Artificial Intelligence · Computer Science 2026-01-13 Nicolas Tacheny

PET theranostics is transforming precision oncology, yet treatment response varies substantially; many patients receiving 177Lu-PSMA radioligand therapy (RLT) for metastatic castration-resistant prostate cancer (mCRPC) fail to respond,…

Recent advancements in Large Language Models (LLMs) have catalyzed a paradigm shift from static prediction systems to agentic AI agents capable of reasoning, interacting with tools, and adapting to complex tasks. While LLM-based agentic…

Computer Vision and Pattern Recognition · Computer Science 2025-07-24 Nima Fathi , Amar Kumar , Tal Arbel

Artificial Intelligence has revolutionised critical care for common conditions. Yet, rare conditions in the intensive care unit (ICU), including recognised rare diseases and low-prevalence conditions in the ICU, remain underserved due to…

Machine Learning · Computer Science 2025-07-10 Mingcheng Zhu , Yu Liu , Zhiyao Luo , Tingting Zhu

Large language model (LLM) agents extend generative models with reasoning, tool use, and persistent memory, thereby enabling the automation of complex tasks. In healthcare, such systems could support documentation, care coordination, and…

Artificial Intelligence · Computer Science 2026-03-24 Wenxian Yang , Hanzheng Qiu , Bangqun Zhang , Chengquan Li , Zhiyong Huang , Xiaobin Feng , Rongshan Yu , Jiahong Dong

Interactive medical consultation requires an agent to proactively elicit missing clinical evidence under uncertainty. Yet existing evaluations largely remain static or outcome-centric, neglecting the evidence-gathering process. In this…

Computation and Language · Computer Science 2026-01-28 Zhuohan Long , Zhijie Bao , Zhongyu Wei

Large Language Models (LLMs) have shown impressive performance on existing medical question-answering benchmarks. This high performance makes it increasingly difficult to meaningfully evaluate and differentiate advanced methods. We present…

Computation and Language · Computer Science 2025-03-21 Xiangru Tang , Daniel Shao , Jiwoong Sohn , Jiapeng Chen , Jiayi Zhang , Jinyu Xiang , Fang Wu , Yilun Zhao , Chenglin Wu , Wenqi Shi , Arman Cohan , Mark Gerstein

Task-specialized models form the backbone of agentic healthcare systems, enabling the agents to answer clinical queries across tasks such as disease diagnosis, localization, and report generation. Yet, for a given task, a single "best"…

Machine Learning · Computer Science 2026-02-17 Pramit Saha , Joshua Strong , Mohammad Alsharid , Divyanshu Mishra , J. Alison Noble

Many rare genetic diseases exhibit recognizable facial phenotypes, which are often used as diagnostic clues. However, current facial phenotype diagnostic models, which are trained on image datasets, have high accuracy but often suffer from…

Quantitative Methods · Quantitative Biology 2025-04-21 Jie Song , Mengqiao He , Shumin Ren , Bairong Shen

This paper presents an innovative large language model (LLM) agent framework for enhancing diagnostic accuracy in simulated clinical environments using the AgentClinic benchmark. The proposed automatic correction enables doctor agents to…

Artificial Intelligence · Computer Science 2024-10-15 Abhishek Dutta , Yen-Che Hsiao

Rare diseases affect a relatively small number of people, which limits investment in research for treatments and cures. Developing an efficient method for rare disease detection is a crucial first step towards subsequent clinical research.…

Machine Learning · Computer Science 2018-12-04 Wenyuan Li , Yunlong Wang , Yong Cai , Corey Arnold , Emily Zhao , Yilian Yuan

Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual…

Computation and Language · Computer Science 2024-11-12 Jinge Wu , Hang Dong , Zexi Li , Haowei Wang , Runci Li , Arijit Patra , Chengliang Dai , Waqar Ali , Phil Scordis , Honghan Wu

Large Language Models (LLMs) have advanced artificial intelligence by enabling human-like text generation and natural language understanding. However, their reliance on static training data limits their ability to respond to dynamic,…

Artificial Intelligence · Computer Science 2026-04-02 Aditi Singh , Abul Ehtesham , Saket Kumar , Tala Talaei Khoei , Athanasios V. Vasilakos

Chest X ray (CXR) imaging remains a critical diagnostic tool for thoracic conditions, but current automated systems face limitations in pathology coverage, diagnostic accuracy, and integration of visual and textual reasoning. To address…

Computer Vision and Pattern Recognition · Computer Science 2025-06-18 Wenting Chen , Yi Dong , Zhaojun Ding , Yucheng Shi , Yifan Zhou , Fang Zeng , Yijun Luo , Tianyu Lin , Yihang Su , Yichen Wu , Kai Zhang , Zhen Xiang , Tianming Liu , Ninghao Liu , Lichao Sun , Yixuan Yuan , Xiang Li

Clinical decision-making is inherently complex and fast-paced, particularly in emergency departments (EDs) where critical, rapid and high-stakes decisions are made. Clinical Decision Rules (CDRs) are standardized evidence-based tools that…

Early diagnosis and intervention for Autism Spectrum Disorder (ASD) has been shown to significantly improve the quality of life of autistic individuals. However, diagnostics methods for ASD rely on assessments based on clinical presentation…

Image and Video Processing · Electrical Eng. & Systems 2025-03-05 Suryansh Vidya , Kush Gupta , Amir Aly , Andy Wills , Emmanuel Ifeachor , Rohit Shankar

Chest X-rays (CXRs) play an integral role in driving critical decisions in disease management and patient care. While recent innovations have led to specialized models for various CXR interpretation tasks, these solutions often operate in…

Machine Learning · Computer Science 2025-05-30 Adibvafa Fallahpour , Jun Ma , Alif Munim , Hongwei Lyu , Bo Wang