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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

The introduction of Large Language Models (LLMs), and the vast volume of publicly available medical data, amplified the application of NLP to the medical domain. However, LLMs are pretrained on data that are not explicitly relevant to the…

Computation and Language · Computer Science 2023-12-12 Chris Solomou

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

Recent advancements in artificial intelligence (AI), especially large language models (LLMs), have significantly advanced healthcare applications and demonstrated potentials in intelligent medical treatment. However, there are conspicuous…

Computation and Language · Computer Science 2025-05-26 Qinkai Yu , Mingyu Jin , Dong Shu , Chong Zhang , Lizhou Fan , Wenyue Hua , Suiyuan Zhu , Yanda Meng , Zhenting Wang , Mengnan Du , Yongfeng Zhang

Textual data from social platforms captures various aspects of mental health through discussions around and across issues, while users reach out for help and others sympathize and offer support. We propose a comprehensive framework that…

Social and Information Networks · Computer Science 2025-03-04 Vaishali Aggarwal , Sachin Thukral , Krushil Patel , Arnab Chatterjee

This article reviews recent advances in applying natural language processing (NLP) to Electronic Health Records (EHRs) for computational phenotyping. NLP-based computational phenotyping has numerous applications including diagnosis…

Computation and Language · Computer Science 2018-06-18 Zexian Zeng , Yu Deng , Xiaoyu Li , Tristan Naumann , Yuan Luo

Digital health tools have the potential to significantly improve the delivery of healthcare services. However, their adoption remains comparatively limited due, in part, to challenges surrounding usability and trust. Large Language Models…

Computation and Language · Computer Science 2024-03-01 Fergus Imrie , Paulius Rauba , Mihaela van der Schaar

Multimodal large language models (MLLMs) have advanced clinical tasks for common conditions, but their performance on rare diseases remains largely untested. In rare-disease scenarios, clinicians often lack prior clinical knowledge, forcing…

Computer Vision and Pattern Recognition · Computer Science 2026-05-14 Junzhi Ning , Jiashi Lin , Yingying Fang , Wei Li , Jiyao Liu , Cheng Tang , Chenglong Ma , Wenhao Tang , Tianbin Li , Ziyan Huang , Guang Yang , Junjun He

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

Large language models (LLMs) have demonstrated strong performance on medical benchmarks, including question answering and diagnosis. To enable their use in clinical settings, LLMs are typically further adapted through continued pretraining…

The growing prevalence and complexity of mental health disorders present significant challenges for accurate diagnosis and treatment, particularly in understanding the interplay between co-occurring conditions. Mental health disorders, such…

Artificial Intelligence · Computer Science 2024-12-06 Abdelrahaman A. Hassan , Radwa J. Hanafy , Mohammed E. Fouda

Rare diseases are challenging to diagnose due to limited patient data and genetic diversity. Despite advances in variant prioritization, many cases remain undiagnosed. While large language models (LLMs) have performed well in medical exams,…

In trustworthy medical diagnosis systems, integrating out-of-distribution (OOD) detection aims to identify unknown diseases in samples, thereby mitigating the risk of misdiagnosis. In this study, we propose a novel OOD detection framework…

Computer Vision and Pattern Recognition · Computer Science 2025-08-26 Runhe Lai , Xinhua Lu , Kanghao Chen , Qichao Chen , Wei-Shi Zheng , Ruixuan Wang

Automatic disease diagnosis has become increasingly valuable in clinical practice. The advent of large language models (LLMs) has catalyzed a paradigm shift in artificial intelligence, with growing evidence supporting the efficacy of LLMs…

Despite rapid advances in large language models (LLMs), their integration with traditional supervised machine learning (ML) techniques that have proven applicability to medical data remains underexplored. This is particularly true for…

Computation and Language · Computer Science 2025-05-28 Yuxin Zhu , Yuting Guo , Noah Marchuck , Abeed Sarker , Yun Wang

Foundation large language models (LLMs) have shown an impressive ability to solve tasks across a wide range of fields including health. To effectively solve personalized health tasks, LLMs need the ability to ingest a diversity of data…

Structured data offers a sophisticated mechanism for the organization of information. Existing methodologies for the text-serialization of structured data in the context of large language models fail to adequately address the heterogeneity…

Computation and Language · Computer Science 2024-02-20 YiQiu Guo , Yuchen Yang , Ya Zhang , Yu Wang , Yanfeng Wang

Identifying disease interconnections through manual analysis of large-scale clinical data is labor-intensive, subjective, and prone to expert disagreement. While machine learning (ML) shows promise, three critical challenges remain: (1)…

Clinical natural language processing (NLP) is increasingly in demand in both clinical research and operational practice. However, most of the state-of-the-art solutions are transformers-based and require high computational resources,…

Computation and Language · Computer Science 2025-04-18 Jianlin Shi , Qiwei Gan , Elizabeth Hanchrow , Annie Bowles , John Stanley , Adam P. Bress , Jordana B. Cohen , Patrick R. Alba

This paper introduces an approach that combines the language reasoning capabilities of large language models (LLMs) with the benefits of local training to tackle complex, domain-specific tasks. Specifically, the authors demonstrate their…

Computation and Language · Computer Science 2023-08-04 V. K. Cody Bumgardner , Aaron Mullen , Sam Armstrong , Caylin Hickey , Jeff Talbert