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The extraction of relevant data from Electronic Health Records (EHRs) is crucial to identifying symptoms and automating epidemiological surveillance processes. By harnessing the vast amount of unstructured text in EHRs, we can detect…

Computation and Language · Computer Science 2025-02-10 Juliano Genari , Guilherme Tegoni Goedert

Electronic health records (EHRs) linked with familial relationship data offer a unique opportunity to investigate the genetic architecture of complex phenotypes at scale. However, existing heritability and coheritability estimation methods…

Methodology · Statistics 2025-11-12 Yinjun Zhao , Nicholas Tatonetti , Yuanjia Wang

Detailed phenotype information is fundamental to accurate diagnosis and risk estimation of diseases. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However,…

Machine Learning · Computer Science 2023-04-28 Shenghan Zhang , Haoxuan Li , Ruixiang Tang , Sirui Ding , Laila Rasmy , Degui Zhi , Na Zou , Xia Hu

Disease phenotyping algorithms process observational clinical data to identify patients with specific diseases. Supervised phenotyping methods require significant quantities of expert-labeled data, while unsupervised methods may learn…

Machine Learning · Computer Science 2019-03-27 Victor Rodriguez , Adler Perotte

Non-negative tensor factorization has been shown a practical solution to automatically discover phenotypes from the electronic health records (EHR) with minimal human supervision. Such methods generally require an input tensor describing…

Machine Learning · Computer Science 2020-11-13 Kejing Yin , William K. Cheung , Benjamin C. M. Fung , Jonathan Poon

We develop an unsupervised probabilistic model for heterogeneous Electronic Health Record (EHR) data. Utilizing a mixture model formulation, our approach directly models sequences of arbitrary length, such as medications and laboratory…

Machine Learning · Computer Science 2022-09-02 Alan D. Kaplan , John D. Greene , Vincent X. Liu , Priyadip Ray

The extraction of phenotype information which is naturally contained in electronic health records (EHRs) has been found to be useful in various clinical informatics applications such as disease diagnosis. However, due to imprecise…

Computation and Language · Computer Science 2019-11-12 Jingqing Zhang , Xiaoyu Zhang , Kai Sun , Xian Yang , Chengliang Dai , Yike Guo

Objectives: In the United States, 25% of people with type 2 diabetes are undiagnosed. Conventional screening models use limited demographic information to assess risk. We evaluated whether electronic health record (EHR) phenotyping could…

Quantitative Methods · Quantitative Biology 2015-01-13 Ariana E. Anderson , Wesley T. Kerr , April Thames , Tong Li , Jiayang Xiao , Mark S. Cohen

With the recent availability of Electronic Health Records (EHR) and great opportunities they offer for advancing medical informatics, there has been growing interest in mining EHR for improving quality of care. Disease diagnosis due to its…

Artificial Intelligence · Computer Science 2018-04-24 Anahita Hosseini , Ting Chen , Wenjun Wu , Yizhou Sun , Majid Sarrafzadeh

Models have been proposed to extract temporal patterns from longitudinal electronic health records (EHR) for clinical predictive models. However, the common relations among patients (e.g., receiving the same medical treatments) were rarely…

Applications · Statistics 2019-09-27 Yue Wang , Tong Wu , Yunlong Wang , Gao Wang

Modern electronic health records (EHRs) provide data to answer clinically meaningful questions. The growing data in EHRs makes healthcare ripe for the use of machine learning. However, learning in a clinical setting presents unique…

Machine Learning · Computer Science 2019-12-09 Marzyeh Ghassemi , Tristan Naumann , Peter Schulam , Andrew L. Beam , Irene Y. Chen , Rajesh Ranganath

Objectives: Unsupervised learning with electronic health record (EHR) data has shown promise for phenotype discovery, but approaches typically disregard existing clinical information, limiting interpretability. We operationalize a Bayesian…

Electronic health records (EHRs) include simple features like patient age together with more complex data like care history that are informative but not easily represented as individual features. To better harness such data, we developed an…

Artificial Intelligence · Computer Science 2023-02-14 Jacqueline K. Kueper , Jennifer Rayner , Daniel J. Lizotte

The automatic development of phenotype algorithms from Electronic Health Record data with machine learning (ML) techniques is of great interest given the current practice is very time-consuming and resource intensive. The extraction of…

Clinical notes in Electronic Health Records (EHR) present rich documented information of patients to inference phenotype for disease diagnosis and study patient characteristics for cohort selection. Unsupervised user embedding aims to…

Computation and Language · Computer Science 2022-03-30 Xiaolei Huang , Franck Dernoncourt , Mark Dredze

Augmentation of disease diagnosis and decision-making in healthcare with machine learning algorithms is gaining much impetus in recent years. In particular, in the current epidemiological situation caused by COVID-19 pandemic, swift and…

Computers and Society · Computer Science 2021-02-23 Leopold Franz , Yash Raj Shrestha , Bibek Paudel

The availability of large and deep electronic healthcare records (EHR) datasets has the potential to enable a better understanding of real-world patient journeys, and to identify novel subgroups of patients. ML-based aggregation of EHR data…

Machine Learning · Computer Science 2022-08-03 Owen Parsons , Nathan E Barlow , Janie Baxter , Karen Paraschin , Andrea Derix , Peter Hein , Robert Dürichen

With the increasing availability of electronic health records (EHR) linked with biobank data for translational research, a critical step in realizing its potential is to accurately classify phenotypes for patients. Existing approaches to…

Methodology · Statistics 2024-04-02 Molei Liu , Xinyi Wang , Chuan Hong

The wide adoption of Electronic Health Records (EHR) has resulted in large amounts of clinical data becoming available, which promises to support service delivery and advance clinical and informatics research. Deep learning techniques have…

Machine Learning · Computer Science 2022-02-14 Thanh Nguyen-Duc , Natasha Mulligan , Gurdeep S. Mannu , Joao H. Bettencourt-Silva

Multimorbidity, or the presence of several medical conditions in the same individual, has been increasing in the population, both in absolute and relative terms. However, multimorbidity remains poorly understood, and the evidence from…