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The paper presents a systematic review of state-of-the-art approaches to identify patient cohorts using electronic health records. It gives a comprehensive overview of the most commonly de-tected phenotypes and its underlying data sets.…

Machine Learning · Statistics 2017-07-25 Norman Hiob , Stefan Lessmann

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

Extracting actionable insight from Electronic Health Records (EHRs) poses several challenges for traditional machine learning approaches. Patients are often missing data relative to each other; the data comes in a variety of modalities,…

Machine Learning · Computer Science 2018-11-13 Brandon Malone , Alberto Garcia-Duran , Mathias Niepert

Electronic phenotyping is the task of ascertaining whether an individual has a medical condition of interest by analyzing their medical record and is foundational in clinical informatics. Increasingly, electronic phenotyping is performed…

Machine Learning · Statistics 2019-01-08 Daisy Yi Ding , Chloé Simpson , Stephen Pfohl , Dave C. Kale , Kenneth Jung , Nigam H. Shah

Electronic Health Records often suffer from missing data, which poses a major problem in clinical practice and clinical studies. A novel approach for dealing with missing data are Generative Adversarial Nets (GANs), which have been…

Machine Learning · Computer Science 2021-08-06 Yinchong Yang , Zhiliang Wu , Volker Tresp , Peter A. Fasching

The features in high dimensional biomedical prediction problems are often well described with lower dimensional manifolds. An example is genes that are organised in smaller functional networks. The outcome can then be described with the…

Two key challenges in modern statistical applications are the large amount of information recorded per individual, and that such data are often not collected all at once but in batches. These batch effects can be complex, causing…

Applications · Statistics 2019-05-21 Alejandra Avalos-Pacheco , David Rossell , Richard S. Savage

Statistical learning with a large number of rare binary features is commonly encountered in analyzing electronic health records (EHR) data, especially in the modeling of disease onset with prior medical diagnoses and procedures. Dealing…

Machine Learning · Computer Science 2024-02-28 Jianmin Chen , Robert H. Aseltine , Fei Wang , Kun Chen

Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease…

Machine Learning · Computer Science 2013-10-17 Shandian Zhe , Zenglin Xu , Yuan Qi

Standard linear modeling approaches make potentially simplistic assumptions regarding the structure of categorical effects that may obfuscate more complex relationships governing data. For example, recent work focused on the two-way…

Methodology · Statistics 2019-03-05 Thomas A. Metzger , Christopher T. Franck

Alzheimer's disease is a progressive, debilitating neurodegenerative disease that affects 50 million people globally. Despite this substantial health burden, available treatments for the disease are limited and its fundamental causes remain…

Machine Learning · Computer Science 2024-04-02 Matthew West , Colin Magdamo , Lily Cheng , Yingnan He , Sudeshna Das

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

We introduce a novel Bayesian hybrid matrix factorisation model (HMF) for data integration, based on combining multiple matrix factorisation methods, that can be used for in- and out-of-matrix prediction of missing values. The model is very…

Machine Learning · Statistics 2017-04-18 Thomas Brouwer , Pietro Lió

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

Analyzing electronic health records (EHR) poses significant challenges because often few samples are available describing a patient's health and, when available, their information content is highly diverse. The problem we consider is how to…

Machine Learning · Statistics 2019-12-20 Alexis Bellot , Mihaela van der Schaar

Machine learning holds great promise for advancing the field of medicine, with electronic health records (EHRs) serving as a primary data source. However, EHRs are often sparse and contain missing data due to various challenges and…

Machine Learning · Computer Science 2026-02-25 Jun Han , Josue Nassar , Sanjit Singh Batra , Aldo Cordova-Palomera , Vijay Nori , Robert E. Tillman

In this study, we introduce ExBEHRT, an extended version of BEHRT (BERT applied to electronic health records), and apply different algorithms to interpret its results. While BEHRT considers only diagnoses and patient age, we extend the…

Machine Learning · Computer Science 2023-08-14 Maurice Rupp , Oriane Peter , Thirupathi Pattipaka

Latent factor models are the canonical statistical tool for exploratory analyses of low-dimensional linear structure for an observation matrix with p features across n samples. We develop a structured Bayesian group factor analysis model…

Methodology · Statistics 2015-11-12 Shiwen Zhao , Chuan Gao , Sayan Mukherjee , Barbara E Engelhardt

Identifying altered pathways that are associated with specific cancer types can potentially bring a significant impact on cancer patient treatment. Accurate identification of such key altered pathways information can be used to develop…

Machine Learning · Statistics 2017-12-05 Sunho Park , Tae Hyun Hwang

Population attributes are essential in health for understanding who the data represents and precision medicine efforts. Even within disease infection labels, patients can exhibit significant variability; "fever" may mean something different…

Machine Learning · Statistics 2018-11-28 Vishwali Mhasawade , Nabeel Abdur Rehman , Rumi Chunara