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Related papers: Characterizing Design Patterns of EHR-Driven Pheno…

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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

Motivation: Phenotype concept recognition (CR) is a fundamental task in biomedical text mining. However, existing methods either require ontology-specific training, making them struggle to generalize across diverse text styles and evolving…

Computation and Language · Computer Science 2026-04-06 Yicheng Tao , Yuanhao Huang , Yiqun Wang , Xin Luo , Jie Liu

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

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

Prototype-based neural networks offer interpretable predictions by comparing inputs to learned, representative signal patterns anchored in training data. While such models have shown promise in the classification of physiological data, it…

Machine Learning · Computer Science 2026-05-28 Sahil Sethi , David Chen , Michael C. Burkhart , Nipun Bhandari , Bashar Ramadan , Brett Beaulieu-Jones

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

Recently, the enactment of privacy regulations has promoted the rise of the machine unlearning paradigm. Existing studies of machine unlearning mainly focus on sample-wise unlearning, such that a learnt model will not expose user's privacy…

Machine Learning · Computer Science 2022-04-19 Tao Guo , Song Guo , Jiewei Zhang , Wenchao Xu , Junxiao Wang

Predicting phenotypes with complex genetic bases based on a small, interpretable set of variant features remains a challenging task. Conventionally, data-driven approaches are utilized for this task, yet the high dimensional nature of…

Machine Learning · Computer Science 2025-04-17 Joseph Lee , Shu Yang , Jae Young Baik , Xiaoxi Liu , Zhen Tan , Dawei Li , Zixuan Wen , Bojian Hou , Duy Duong-Tran , Tianlong Chen , Li Shen

The use of Electronic Health Records (EHRs) has increased dramatically in the past 15 years, as, it is considered an important source of managing data od patients. The EHRs are primary sources of disease diagnosis and demographic data of…

Machine Learning · Computer Science 2024-04-02 Bushra F. Alsaqer , Alaa F. Alsaqer , Amna Asif

Many machine learning models have been proposed to classify phenotypes from gene expression data. In addition to their good performance, these models can potentially provide some understanding of phenotypes by extracting explanations for…

Genomics · Quantitative Biology 2024-02-05 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Benjamin Audit , Pierre Borgnat , Jean-Michel Arbona

Deep Learning based models are currently dominating most state-of-the-art solutions for disease prediction. Existing works employ RNNs along with multiple levels of attention mechanisms to provide interpretability. These deep learning…

Machine Learning · Statistics 2022-06-01 Subhadip Maji , Raghav Bali , Sree Harsha Ankem , Kishore V Ayyadevara

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…

Building phenotype models using electronic health record (EHR) data conventionally requires manually labeled cases and controls. Assigning labels is labor intensive and, for some phenotypes, identifying gold-standard controls is…

Federated machine learning is growing fast in academia and industries as a solution to solve data hungriness and privacy issues in machine learning. Being a widely distributed system, federated machine learning requires various system…

Machine Learning · Computer Science 2023-05-01 Sin Kit Lo , Qinghua Lu , Hye-Young Paik , Liming Zhu

Document-level models for information extraction tasks like slot-filling are flexible: they can be applied to settings where information is not necessarily localized in a single sentence. For example, key features of a diagnosis in a…

Computation and Language · Computer Science 2022-05-19 Liyan Tang , Dhruv Rajan , Suyash Mohan , Abhijeet Pradhan , R. Nick Bryan , Greg Durrett

Disease identification is a core, routine activity in observational health research. Cohorts impact downstream analyses, such as how a condition is characterized, how patient risk is defined, and what treatments are studied. It is thus…

Other Quantitative Biology · Quantitative Biology 2022-08-30 Tony Y. Sun , Shreyas Bhave , Jaan Altosaar , Noémie Elhadad

Digital healthcare systems have enabled the collection of mass healthcare data in electronic healthcare records (EHRs), allowing artificial intelligence solutions for various healthcare prediction tasks. However, existing studies often…

Machine Learning · Computer Science 2025-08-27 Zi Cai , Yu Liu , Zhiyao Luo , Tingting Zhu

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…

With large volumes of health care data comes the research area of computational phenotyping, making use of techniques such as machine learning to describe illnesses and other clinical concepts from the data itself. The "traditional"…

Machine Learning · Statistics 2016-12-30 Chris Hodapp

Tagging items with descriptive annotations or keywords is a very natural way to compress and highlight information about the properties of the given entity. Over the years several methods have been proposed for extracting a hierarchy…

Information Retrieval · Computer Science 2014-01-23 Gergely Tibély , Péter Pollner , Tamás Vicsek , Gergely Palla