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In biomedical natural language processing, named entity recognition (NER) and named entity normalization (NEN) are key tasks that enable the automatic extraction of biomedical entities (e.g. diseases and drugs) from the ever-growing…

Computation and Language · Computer Science 2022-10-07 Mujeen Sung , Minbyul Jeong , Yonghwa Choi , Donghyeon Kim , Jinhyuk Lee , Jaewoo Kang

We propose a novel approach to enhancing the performance and efficiency of large language models (LLMs) by combining domain prompt routing with domain-specialized models. We introduce a system that utilizes a BERT-based router to direct…

Computation and Language · Computer Science 2024-10-11 Toby Simonds , Kemal Kurniawan , Jey Han Lau

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

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

Recent advances in natural language processing (NLP) can be largely attributed to the advent of pre-trained language models such as BERT and RoBERTa. While these models demonstrate remarkable performance on general datasets, they can…

Accurate prediction and identification of variables associated with outcomes or disease states are critical for advancing diagnosis, prognosis, and precision medicine in biomedical research. Regularized regression techniques, such as lasso,…

Applications · Statistics 2025-04-14 Xiaoru Dong , Apoorva Goyal , Muxuan Liang , Maigan A. Brusko , Todd M. Brusko , Rhonda Bacher

Extracting detailed clinical information from free-text medical narratives remains a practical challenge for researchers and healthcare systems. Terminology for immune-mediated and infectious diseases is especially inconsistent across…

Computation and Language · Computer Science 2026-05-29 Veysel Kocaman , Gursev Pirge , Yigit Gul , Ace Vo , Zhenya Nargizyan , David Talby

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

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

High-throughput phenotyping, the automated mapping of patient signs and symptoms to standardized ontology concepts, is essential to gaining value from electronic health records (EHR) in the support of precision medicine. Despite…

Artificial Intelligence · Computer Science 2024-06-24 Syed I. Munzir , Daniel B. Hier , Chelsea Oommen , Michael D. Carrithers

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

Background: Machine learning methods for clinical named entity recognition and entity normalization systems can utilize both labeled corpora and Knowledge Graphs (KGs) for learning. However, infrequently occurring concepts may have few…

Computation and Language · Computer Science 2024-10-11 Kuleen Sasse , Shinjitha Vadlakonda , Richard E. Kennedy , John D. Osborne

Large language models (LLMs) can generate natural language texts for various domains and tasks, but their potential for clinical text mining, a domain with scarce, sensitive, and imbalanced medical data, is underexplored. We investigate…

Computation and Language · Computer Science 2024-02-23 Rumeng Li , Xun Wang , Hong Yu

Accurate extraction of Alzheimer's Disease and Related Dementias (ADRD) phenotypes from electronic health records (EHR) is critical for early-stage detection and disease staging. However, this information is usually embedded in unstructured…

Artificial Intelligence · Computer Science 2026-03-17 Mingchen Shao , Yuzhang Xie , Carl Yang , Jiaying Lu

With the exponential increase in online scientific literature, identifying reliable domain-specific data has become increasingly important but also very challenging. Manual data collection and filtering for domain-specific scientific…

Information Retrieval · Computer Science 2026-03-10 Nikita Gautam , Doina Caragea , Ignacio Ciampitti , Federico Gomez

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

Although traditional statistical techniques and machine learning methods have contributed significantly to genetics and, in particular, inherited disease diagnosis, they often struggle with complex, high-dimensional data, a challenge now…

Machine Learning · Computer Science 2025-08-29 Anton Changalidis , Yury Barbitoff , Yulia Nasykhova , Andrey Glotov

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…

Computation and Language · Computer Science 2025-10-10 Keer Lu , Zheng Liang , Da Pan , Shusen Zhang , Guosheng Dong , Zhonghai Wu , Huang Leng , Bin Cui , Wentao Zhang

Harnessing the robust capabilities of Large Language Models (LLMs) for narrative generation, logical reasoning, and common-sense knowledge integration, this study delves into utilizing LLMs to enhance automated radiology report generation…

Computer Vision and Pattern Recognition · Computer Science 2024-10-08 Yingshu Li , Zhanyu Wang , Yunyi Liu , Lei Wang , Lingqiao Liu , Luping Zhou

An important issue impacting healthcare is a lack of available experts. Machine learning (ML) models could resolve this by aiding in diagnosing patients. However, creating datasets large enough to train these models is expensive. We…

Computation and Language · Computer Science 2024-05-14 Chancellor R. Woolsey , Prakash Bisht , Joshua Rothman , Gondy Leroy
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