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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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Machine Learning · Computer Science 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…

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

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…

Computation and Language · Computer Science 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…

Computational Engineering, Finance, and Science · Computer Science 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…

Computation and Language · Computer Science 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…

Artificial Intelligence · Computer Science 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,…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Computation and Language · Computer Science 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…

Artificial Intelligence · Computer Science 2025-08-20 Yue Fang , Yuxin Guo , Jiaran Gao , Hongxin Ding , Xinke Jiang , Weibin Liao , Yongxin Xu , Yinghao Zhu , Zhibang Yang , Liantao Ma , Junfeng Zhao , Yasha Wang

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…

Machine Learning · Computer Science 2026-04-14 Haolin Li , Shuyang Jiang , Ruipeng Zhang , Jiangchao Yao , Ya Zhang , Yanfeng Wang
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