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The linking of clinical entities is a crucial part of extracting structured information from clinical texts. It is the process of assigning a code from a medical ontology or classification to a phrase in the text. The International…

Computation and Language · Computer Science 2025-09-08 Sylvia Vassileva , Ivan Koychev , Svetla Boytcheva

Medical knowledge graphs (KGs) are essential for clinical decision support and biomedical research, yet they often exhibit incompleteness due to knowledge gaps and structural limitations in medical coding systems. This issue is particularly…

Computation and Language · Computer Science 2025-04-01 Xinyu Yao , Aditya Sannabhadti , Holly Wiberg , Karmel S. Shehadeh , Rema Padman

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…

Quantitative Methods · Quantitative Biology 2024-01-19 Jiayu Chang , Shiyu Wang , Chen Ling , Zhaohui Qin , Liang Zhao

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…

Background Advancements in Large Language Models (LLMs) hold transformative potential in healthcare, however, recent work has raised concern about the tendency of these models to produce outputs that display racial or gender biases.…

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

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…

This study applies Large Language Models (LLMs) to two foundational Electronic Health Record (EHR) data science tasks: structured data querying (using programmatic languages, Python/Pandas) and information extraction from unstructured…

Computation and Language · Computer Science 2026-01-29 Juan Jose Rubio Jan , Jack Wu , Julia Ive

Despite rare diseases affecting 1 in 10 Americans, their differential diagnosis remains challenging. Due to their impressive recall abilities, large language models (LLMs) have been recently explored for differential diagnosis. Existing…

Artificial Intelligence · Computer Science 2026-01-21 Zilal Eiz AlDin , John Wu , Jeffrey Paul Fung , Jennifer King , Mya Watts , Lauren ONeill , Adam Richard Cross , Jimeng Sun

Large language models (LLMs) have recently demonstrated their potential in clinical applications, providing valuable medical knowledge and advice. For example, a large dialog LLM like ChatGPT has successfully passed part of the US medical…

Computer Vision and Pattern Recognition · Computer Science 2023-02-15 Sheng Wang , Zihao Zhao , Xi Ouyang , Qian Wang , Dinggang Shen

Background: Recent advancements in large language models (LLMs) offer potential benefits in healthcare, particularly in processing extensive patient records. However, existing benchmarks do not fully assess LLMs' capability in handling…

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…

Machine Learning · Computer Science 2024-08-26 Zhihao Yu , Yujie Jin , Yongxin Xu , Xu Chu , Yasha Wang , Junfeng Zhao

This study evaluates how well large language models (LLMs) can classify ICD-10 codes from hospital discharge summaries, a critical but error-prone task in healthcare. Using 1,500 summaries from the MIMIC-IV dataset and focusing on the 10…

Computation and Language · Computer Science 2025-07-08 Akram Mustafa , Usman Naseem , Mostafa Rahimi Azghadi

In this study, we investigated the ability of the large language model (LLM) to enhance healthcare data interoperability. We leveraged the LLM to convert clinical texts into their corresponding FHIR resources. Our experiments, conducted on…

Computation and Language · Computer Science 2023-10-23 Yikuan Li , Hanyin Wang , Halid Yerebakan , Yoshihisa Shinagawa , Yuan Luo

The integration of Large Language Models (LLMs) into the drug discovery and development field marks a significant paradigm shift, offering novel methodologies for understanding disease mechanisms, facilitating drug discovery, and optimizing…

Quantitative Methods · Quantitative Biology 2024-09-10 Yizhen Zheng , Huan Yee Koh , Maddie Yang , Li Li , Lauren T. May , Geoffrey I. Webb , Shirui Pan , George Church

Since the release of ChatGPT and GPT-4, large language models (LLMs) and multimodal large language models (MLLMs) have attracted widespread attention for their exceptional capabilities in understanding, reasoning, and generation,…

Computation and Language · Computer Science 2024-12-31 Hanguang Xiao , Feizhong Zhou , Xingyue Liu , Tianqi Liu , Zhipeng Li , Xin Liu , Xiaoxuan Huang

Background: Identification of the interactions and regulatory relations between biomolecules play pivotal roles in understanding complex biological systems and the mechanisms underlying diverse biological functions. However, the collection…

Computation and Language · Computer Science 2025-04-24 Gilchan Park , Byung-Jun Yoon , Xihaier Luo , Vanessa López-Marrero , Shinjae Yoo , Shantenu Jha

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

Recent breakthroughs in large language models (LLMs) offer unprecedented natural language understanding and generation capabilities. However, existing surveys on LLMs in biomedicine often focus on specific applications or model…

Recovering the structure of causal graphical models from observational data is an essential yet challenging task for causal discovery in scientific scenarios. Domain-specific causal discovery usually relies on expert validation or prior…

Artificial Intelligence · Computer Science 2025-08-27 Taiyu Ban , Lyuzhou Chen , Derui Lyu , Xiangyu Wang , Qinrui Zhu , Qiang Tu , Huanhuan Chen
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