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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…

The intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing…

定量方法 · 定量生物学 2024-01-19 Jiayu Chang , Shiyu Wang , Chen Ling , Zhaohui Qin , Liang Zhao

Digital health analytics face critical challenges nowadays. The sophisticated analysis of patient-generated health content, which contains complex emotional and medical contexts, requires scarce domain expertise, while traditional ML…

Through additional training, we explore embedding specialized scientific knowledge into the Llama 2 Large Language Model (LLM). Key findings reveal that effective knowledge integration requires reading texts from multiple perspectives,…

计算与语言 · 计算机科学 2023-12-19 Kan Hatakeyama-Sato , Yasuhiko Igarashi , Shun Katakami , Yuta Nabae , Teruaki Hayakawa

Automatic relationship extraction (RE) from biomedical literature is critical for managing the vast amount of scientific knowledge produced each year. In recent years, utilizing pre-trained language models (PLMs) has become the prevalent…

计算与语言 · 计算机科学 2025-11-04 Mario Sänger , Ulf Leser

Electronic Health Records (EHRs) offer considerable potential for clinical prediction, but their complexity and heterogeneity challenge traditional machine learning. Domain-specific EHR foundation models trained on unlabeled EHR data have…

Large Language Models (LLMs) have been widely applied in various professional fields. By fine-tuning the models using domain specific question and answer datasets, the professional domain knowledge and Q\&A abilities of these models have…

计算与语言 · 计算机科学 2024-07-17 Qimin Yang , Rongsheng Wang , Jiexin Chen , Runqi Su , Tao Tan

Large Language Models (LLMs) have exhibited remarkable capabilities in clinical scenarios. Despite their potential, existing works face challenges when applying LLMs to medical settings. Strategies relying on training with medical datasets…

计算与语言 · 计算机科学 2025-10-10 Keer Lu , Zheng Liang , Da Pan , Shusen Zhang , Guosheng Dong , Zhonghai Wu , Huang Leng , Bin Cui , Wentao Zhang

The development of large language models (LLMs) has brought unprecedented possibilities for artificial intelligence (AI) based medical diagnosis. However, the application perspective of LLMs in real diagnostic scenarios is still unclear…

计算与语言 · 计算机科学 2024-05-21 Zhoujian Sun , Cheng Luo , Ziyi Liu , Zhengxing Huang

Large Language Models (LLMs) have been shown to encode clinical knowledge. Many evaluations, however, rely on structured question-answer benchmarks, overlooking critical challenges of interpreting and reasoning about unstructured clinical…

计算与语言 · 计算机科学 2026-04-01 Meghal Dani , Muthu Jeyanthi Prakash , Filip Rosa , Zeynep Akata , Stefanie Liebe

Medical dialogue information extraction is becoming an increasingly significant problem in modern medical care. It is difficult to extract key information from electronic medical records (EMRs) due to their large numbers. Previously,…

计算与语言 · 计算机科学 2023-03-14 Xinshi Wang , Daniel Tang

Electronic health records (EHRs) contain valuable patient data for health-related prediction tasks, such as disease prediction. Traditional approaches rely on supervised learning methods that require large labeled datasets, which can be…

计算与语言 · 计算机科学 2024-03-26 Hejie Cui , Zhuocheng Shen , Jieyu Zhang , Hui Shao , Lianhui Qin , Joyce C. Ho , Carl Yang

Identifying disease phenotypes from electronic health records (EHRs) is critical for numerous secondary uses. Manually encoding physician knowledge into rules is particularly challenging for rare diseases due to inadequate EHR coding,…

Tuberculosis (TB) is one of the world's deadliest infectious diseases, and in South Africa, it contributes a significant burden to the country's health care system. This paper presents an experimental study on the development of a…

计算与语言 · 计算机科学 2026-04-23 Thokozile Khosa , Olawande Daramola

Contemporary large language models (LLMs) may have utility for processing unstructured, narrative free-text clinical data contained in electronic health records (EHRs) -- a particularly important use-case for mental health where a majority…

人工智能 · 计算机科学 2024-04-01 Niall Taylor , Andrey Kormilitzin , Isabelle Lorge , Alejo Nevado-Holgado , Dan W Joyce

Reliable early detection of Alzheimer's disease (AD) is challenging, particularly due to limited availability of labeled data. While large language models (LLMs) have shown strong transfer capabilities across domains, adapting them to the…

计算与语言 · 计算机科学 2026-02-13 Lei Jiang , Yue Zhou , Natalie Parde

Large language models (LLMs) have emerged as valuable tools for many natural language understanding tasks. In safety-critical applications such as healthcare, the utility of these models is governed by their ability to generate outputs that…

计算与语言 · 计算机科学 2023-03-31 Varun Nair , Elliot Schumacher , Geoffrey Tso , Anitha Kannan

Timely detection of critical health conditions remains a major challenge in public health analytics, especially in Big Data environments characterized by high volume, rapid velocity, and diverse variety of clinical data. This study presents…

数据库 · 计算机科学 2025-10-14 Ritesh Chandra , Sonali Agarwal , Navjot Singh

While pioneering deep learning methods have made great strides in analyzing electronic health record (EHR) data, they often struggle to fully capture the semantics of diverse medical codes from limited data. The integration of external…

机器学习 · 计算机科学 2024-08-26 Zhihao Yu , Yujie Jin , Yongxin Xu , Xu Chu , Yasha Wang , Junfeng Zhao

Rare disease diagnosis requires matching variant-bearing genes to complex patient phenotypes across large and heterogeneous evidence sources. This process remains time-intensive in current clinical interpretation pipelines. To overcome…

基因组学 · 定量生物学 2026-03-09 Jaeyeon Lee , Lin Yao , Hyun-Hwan Jeong , Zhandong Liu