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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

Objective: We investigate whether deep learning techniques for natural language processing (NLP) can be used efficiently for patient phenotyping. Patient phenotyping is a classification task for determining whether a patient has a medical…

High-throughput phenotyping automates the mapping of patient signs to standardized ontology concepts and is essential for precision medicine. This study evaluates the automation of phenotyping of clinical summaries from the Online Mendelian…

Computation and Language · Computer Science 2025-06-11 Daniel B. Hier , S. Ilyas Munzir , Anne Stahlfeld , Tayo Obafemi-Ajayi , Michael D. Carrithers

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

Clinical notes contain an extensive record of a patient's health status, such as smoking status or the presence of heart conditions. However, this detail is not replicated within the structured data of electronic health systems.…

Computation and Language · Computer Science 2020-09-18 Andriy Mulyar , Elliot Schumacher , Masoud Rouhizadeh , Mark Dredze

A large percentage of medical information is in unstructured text format in electronic medical record systems. Manual extraction of information from clinical notes is extremely time consuming. Natural language processing has been widely…

Information Retrieval · Computer Science 2019-08-16 Dianbo Liu , Dmitriy Dligach , Timothy Miller

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

Mining electronic health records for patients who satisfy a set of predefined criteria is known in medical informatics as phenotyping. Phenotyping has numerous applications such as outcome prediction, clinical trial recruitment, and…

Computation and Language · Computer Science 2018-05-08 Dmitriy Dligach , Timothy Miller

A crucial step within secondary analysis of electronic health records (EHRs) is to identify the patient cohort under investigation. While EHRs contain medical billing codes that aim to represent the conditions and treatments patients may…

This paper addresses the challenges posed by the unstructured nature and high-dimensional semantic complexity of electronic health record texts. A deep learning method based on attention mechanisms is proposed to achieve unified modeling…

Computation and Language · Computer Science 2025-07-03 Ting Xu , Xiaoxiao Deng , Xiandong Meng , Haifeng Yang , Yan Wu

The unstructured nature of clinical notes within electronic health records often conceals vital patient-related information, making it challenging to access or interpret. To uncover this hidden information, specialized Natural Language…

Objective: Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field. These processes…

We hypothesize that large language models (LLMs) based on the transformer architecture can enable automated detection of clinical phenotype terms, including terms not documented in the HPO. In this study, we developed two types of models:…

Quantitative Methods · Quantitative Biology 2023-11-10 Jingye Yang , Cong Liu , Wendy Deng , Da Wu , Chunhua Weng , Yunyun Zhou , Kai Wang

Large Language Models (LLMs) have fundamentally transformed approaches to Natural Language Processing (NLP) tasks across diverse domains. In healthcare, accurate and cost-efficient text classification is crucial, whether for clinical notes…

Computation and Language · Computer Science 2026-02-16 Hajar Sakai , Sarah S. Lam

Clinical patient notes are critical for documenting patient interactions, diagnoses, and treatment plans in medical practice. Ensuring accurate evaluation of these notes is essential for medical education and certification. However, manual…

Computation and Language · Computer Science 2024-01-25 Jingyu Xu , Yifeng Jiang , Bin Yuan , Shulin Li , Tianbo Song

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

Background: Many efforts have been put into the use of automated approaches, such as natural language processing (NLP), to mine or extract data from free-text medical records to construct comprehensive patient profiles for delivering better…

Major depressive disorder (MDD) is a prevalent psychiatric disorder that is associated with significant healthcare burden worldwide. Phenotyping of MDD can help early diagnosis and consequently may have significant advantages in patient…

Decision support systems based on clinical notes have the potential to improve patient care by pointing doctors towards overseen risks. Predicting a patient's outcome is an essential part of such systems, for which the use of deep neural…

Computation and Language · Computer Science 2021-12-01 Betty van Aken , Sebastian Herrmann , Alexander Löser

Electronic Health Records are electronic data generated during or as a byproduct of routine patient care. Structured, semi-structured and unstructured EHR offer researchers unprecedented phenotypic breadth and depth and have the potential…

Artificial Intelligence · Computer Science 2017-07-26 Vaclav Papez , Spiros Denaxas , Harry Hemingway
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