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Rare diseases affect over 300 million people worldwide and are characterized by complex care pathways, limited clinical expertise, and substantial unmet communication needs throughout the long patient journey. Recent advances in large…

计算与语言 · 计算机科学 2026-04-17 Zaifu Zhan , Yu Hou , Kai Yu , Min Zeng , Anita Burgun , Xiaoyi Chen , Rui Zhang

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare…

计算与语言 · 计算机科学 2025-05-26 Valentina Carbonari , Pierangelo Veltri , Pietro Hiram Guzzi

Detecting Alzheimer's Disease (AD) from narrative transcripts remains a challenging task for large language models (LLMs), particularly under out-of-distribution (OOD) and data-scarce conditions. While in-context learning (ICL) provides a…

计算与语言 · 计算机科学 2025-11-11 Puzhen Su , Yongzhu Miao , Chunxi Guo , Jintao Tang , Shasha Li , Ting Wang

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…

This paper introduces a novel approach to enhance the capabilities of Large Language Models (LLMs) in processing and understanding extensive text sequences, a critical aspect in applications requiring deep comprehension and synthesis of…

计算与语言 · 计算机科学 2023-12-15 Kaiqiang Song , Xiaoyang Wang , Sangwoo Cho , Xiaoman Pan , Dong Yu

Although rare diseases are characterized by low prevalence, approximately 300 million people are affected by a rare disease. The early and accurate diagnosis of these conditions is a major challenge for general practitioners, who do not…

计算与语言 · 计算机科学 2021-11-12 Isabel Segura-Bedmar , David Camino-Perdonas , Sara Guerrero-Aspizua

Large language models (LLMs) have become increasingly popular in medical domains to assist physicians with a variety of clinical and operational tasks. Given the fast-paced and high-stakes environment of emergency departments (EDs), small…

计算与语言 · 计算机科学 2025-10-07 Zirui Wang , Jiajun Wu , Braden Teitge , Jessalyn Holodinsky , Steve Drew

With the growing demand for deploying large language models (LLMs) across diverse applications, improving their inference efficiency is crucial for sustainable and democratized access. However, retraining LLMs to meet new user-specific…

机器学习 · 计算机科学 2026-01-21 Mingyu Yang , Mehdi Rezagholizadeh , Guihong Li , Vikram Appia , Emad Barsoum

Medical decision-support and advising systems are critical for emergency physicians to quickly and accurately assess patients' conditions and make diagnosis. Artificial Intelligence (AI) has emerged as a transformative force in healthcare…

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…

计算与语言 · 计算机科学 2024-11-12 Jinge Wu , Hang Dong , Zexi Li , Haowei Wang , Runci Li , Arijit Patra , Chengliang Dai , Waqar Ali , Phil Scordis , Honghan Wu

Clinical oncology generates vast, unstructured data that often contain inconsistencies, missing information, and ambiguities, making it difficult to extract reliable insights for data-driven decision-making. General-purpose large language…

计算与语言 · 计算机科学 2025-03-12 Morteza Rohanian , Tarun Mehra , Nicola Miglino , Farhad Nooralahzadeh , Michael Krauthammer , Andreas Wicki

Despite the impressive capabilities of Large Language Models (LLMs) in general medical domains, questions remain about their performance in diagnosing rare diseases. To answer this question, we aim to assess the diagnostic performance of…

计算工程、金融与科学 · 计算机科学 2024-08-19 Guanchu Wang , Junhao Ran , Ruixiang Tang , Chia-Yuan Chang , Chia-Yuan Chang , Yu-Neng Chuang , Zirui Liu , Vladimir Braverman , Zhandong Liu , Xia Hu

Alzheimer's Disease (AD) is a progressive neurodegenerative disorder that leads to dementia, and early intervention can greatly benefit from analyzing linguistic abnormalities. In this work, we explore the potential of Large Language Models…

计算与语言 · 计算机科学 2025-12-23 Chuyuan Li , Raymond Li , Thalia S. Field , Giuseppe Carenini

Alzheimer's disease is a neurodegenerative disorder marked by progressive declines in memory and language that reduce independence in daily life, motivating socially assistive robotic support. This paper presents MEMOR-E, a mobile quadruped…

人工智能 · 计算机科学 2026-05-26 Maissa Abir Smaili , Eren Sadikoglu , Ransalu Senanayake

Large Language Models (LLMs) have revolutionized various sectors, including healthcare where they are employed in diverse applications. Their utility is particularly significant in the context of rare diseases, where data scarcity,…

计算与语言 · 计算机科学 2024-08-20 Qiuhao Lu , Rui Li , Andrew Wen , Jinlian Wang , Liwei Wang , Hongfang Liu

Alzheimer's Disease (AD) is an irreversible neurodegenerative disease affecting 50 million people worldwide. Low-cost, accurate identification of key markers of AD is crucial for timely diagnosis and intervention. Language impairment is one…

计算与语言 · 计算机科学 2025-05-27 Tingyu Mo , Jacqueline C. K. Lam , Victor O. K. Li , Lawrence Y. L. Cheung

Large language models (LLMs) have demonstrated capabilities across diverse domains, yet their performance on rare disease diagnosis from narrative medical cases remains underexplored. We introduce a novel dataset of 176 symptom-diagnosis…

计算与语言 · 计算机科学 2025-11-17 Arsh Gupta , Ajay Narayanan Sridhar , Bonam Mingole , Amulya Yadav

Large language models (LLMs) have demonstrated impressive capabilities in disease diagnosis. However, their effectiveness in identifying rarer diseases, which are inherently more challenging to diagnose, remains an open question. Rare…

计算与语言 · 计算机科学 2025-02-24 Elliot Schumacher , Dhruv Naik , Anitha Kannan

Improving large language models (LLMs) for electronic health record (EHR) reasoning is essential for enabling accurate and generalizable clinical predictions. While LLMs excel at medical text understanding, they underperform on EHR-based…

While large language models hold promise for complex medical applications, their development is hindered by the scarcity of high-quality reasoning data. To address this issue, existing approaches typically distill chain-of-thought reasoning…

机器学习 · 计算机科学 2026-04-14 Haolin Li , Shuyang Jiang , Ruipeng Zhang , Jiangchao Yao , Ya Zhang , Yanfeng Wang
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