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 via supervised learning. We investigate the effectiveness of multitask learning fo…
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48 results for “Electronic Phenotypes”
VBphenoR uses variational Bayes for EHR-based patient phenotyping.
problem Phenotyping patients from EHR data for targeted treatments.
method Variational Bayes Gaussian Mixture Model (GMM) and logistic regression.
result Closed-form inference for efficient patient phenotype determination.
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. Special attention is given to preprocessing of in-put data and the different modeli…
Study develops electronic phenotypes of ICU patient acuity.
problem Limited time for patient acuity assessments and imprecise clinical trajectory prediction.
method Developed electronic phenotypes using automated variable retrieval in electronic health records.
result Identified three phenotypes: persistently stable, persistently unstable, and transitioning from unstable to stable.
Bayesian model enhances phenotype discovery in asthma EHRs.
problem Lack of interpretability in unsupervised learning phenotyping of EHR data.
method Operationalized a Bayesian latent class framework with clinical knowledge priors.
result Identified an asthma sub-phenotype with elevated eosinophil levels and allergy markers.
SWoTTeD discovers hidden temporal patterns in EHR data.
problem Complex temporal patterns in EHR data.
method Sliding Window for Temporal Tensor Decomposition (SWoTTeD) with constraints and regularizations.
result SWoTTeD achieves at least as accurate reconstruction as state-of-the-art models and extracts meaningful temporal phenotypes.
Using binary silver labels in electronic health records-based computable phenotyping algorithmsstat.ME
Binary PheNorm extends phenotype labeling for EHRs using binary silver labels.
problem Lack of gold-standard phenotype labels in EHR studies.
method Proposes Binary PheNorm, an extension that uses binary silver labels directly in phenotype scoring.
result Binary PheNorm achieved strong discrimination using binary labels alone and improved performance when combined with count labels.
It has been recently shown that sparse, nonnegative tensor factorization of multi-modal electronic health record data is a promising approach to high-throughput computational phenotyping. However, such approaches typically do not leverage available domain knowledge while extracting the phenotypes; hence, some of the su…
Phenotyping electronic health records (EHR) focuses on defining meaningful patient groups (e.g., heart failure group and diabetes group) and identifying the temporal evolution of patients in those groups. Tensor factorization has been an effective tool for phenotyping. Most of the existing works assume either a static …
WEST uses EHRs and expert cases to improve rare disease phenotyping.
problem Limited labeled data for rare diseases.
method Weakly supervised transformer model trained on probabilistic silver-standard labels.
result WEST outperforms existing methods in phenotype classification and subphenotyping.
Tensor factorization models offer an effective approach to convert massive electronic health records into meaningful clinical concepts (phenotypes) for data analysis. These models need a large amount of diverse samples to avoid population bias. An open challenge is how to derive phenotypes jointly across multiple hospi…
Acute Kidney Injury (AKI) is a common clinical syndrome characterized by the rapid loss of kidney excretory function, which aggravates the clinical severity of other diseases in a large number of hospitalized patients. Accurate early prediction of AKI can enable in-time interventions and treatments. However, AKI is hig…
This paper reviews methods for discovering patient subgroups from EHR data.
problem Discovering subgroups of patients and co-occurring medical conditions from EHR data.
method Low-rank data approximation methods like matrix and tensor decompositions.
result These methods provide transparent and interpretable insights into patient phenotypes.
Exponential growth in Electronic Healthcare Records (EHR) has resulted in new opportunities and urgent needs for discovery of meaningful data-driven representations and patterns of diseases in Computational Phenotyping research. Deep Learning models have shown superior performance for robust prediction in computational…
This work proposes a new algorithm for automated and simultaneous phenotyping of multiple co-occurring medical conditions, also referred as comorbidities, using clinical notes from the electronic health records (EHRs). A basic latent factor estimation technique of non-negative matrix factorization (NMF) is augmented wi…
OMTL uses ontology to learn from imbalanced EHR data.
problem Imbalanced and small usable data for phenotypes in EHRs.
method Ontology-driven multi-task learning framework.
result Improved learning performance on phenotypes.
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" approach of using supervised learning relies on a domain expert, and has two main limit…
Study assesses weakly-supervised methods for rare outcomes in medical records.
problem Identifying patients with specific medical conditions using electronic health records.
method Compared three methods (PheNorm, MAP, and sureLDA) in simulations with varying outcomes and silver labels.
result No single method consistently outperformed others, but sureLDA often did well.
Deep learning clusters patient time-series data for better prognosis.
problem Clustering time-series data for patient phenotyping and prognosis.
method Deep predictive clustering with novel loss functions for future outcome distribution.
result Model achieves superior clustering performance and identifies meaningful patient subgroups.
A latent topic model for mining heterogenous non-randomly missing electronic health records datacs.LG
Electronic health records (EHR) are rich heterogeneous collection of patient health information, whose broad adoption provides great opportunities for systematic health data mining. However, heterogeneous EHR data types and biased ascertainment impose computational challenges. Here, we present mixEHR, an unsupervised g…
Tensor factorization has been demonstrated as an efficient approach for computational phenotyping, where massive electronic health records (EHRs) are converted to concise and meaningful clinical concepts. While distributing the tensor factorization tasks to local sites can avoid direct data sharing, it still requires t…
Natural language processing improves COVID-19 hospitalization identification.
problem Identifying patients hospitalized due to COVID-19 among those with positive SARS-CoV-2 tests.
method Used natural language processing on provider notes and structured EHR data elements to create classification algorithms.
result Classification algorithms using provider notes outperformed those using only structured EHR data elements, with AUROC of 0.894 compared to 0.841.
Paper develops a method for causal representation learning from irregular tensors.
problem Complex patterns in high-dimensional, irregular tensor data.
method Novel causal formulation and CaRTeD framework integrating temporal causal representation learning with irregular tensor decomposition.
result Framework provides theoretical guarantees and outperforms state-of-the-art techniques.
Visual summarization of clinical data collected on patients contained within the electronic health record (EHR) may enable precise and rapid triage at the time of patient presentation to an emergency department (ED). The triage process is critical in the appropriate allocation of resources and in anticipating eventual …
PARAFAC2 has demonstrated success in modeling irregular tensors, where the tensor dimensions vary across one of the modes. An example scenario is modeling treatments across a set of patients with the varying number of medical encounters over time. Despite recent improvements on unconstrained PARAFAC2, its model factors…
Artificial intelligence has provided us with an exploration of a whole new research era. As more data and better computational power become available, the approach is being implemented in various fields. The demand for it in health informatics is also increasing, and we can expect to see the potential benefits of its a…
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 non-disease phenotypes. To address these limitations, we propose the Semi-Supervised …
Deep neural network predicts health costs better than traditional models.
problem Accurate prediction of healthcare costs for optimal cost management.
method Developed a deep neural network to predict future health care costs from health insurance claims records.
result Deep neural network outperformed ridge regression and Morbi-RSA models in cost prediction.
The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of phenotypes makes high-throughput phenotype profiling a very difficult and labor…
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 existing research to describe its burden, determinants and consequences has been limi…
A New Statistical Framework for Genetic Pleiotropic Analysis of High Dimensional Phenotype Datastat.ML
The widely used genetic pleiotropic analysis of multiple phenotypes are often designed for examining the relationship between common variants and a few phenotypes. They are not suited for both high dimensional phenotypes and high dimensional genotype (next-generation sequencing) data. To overcome these limitations, we …
Health care is one of the most exciting frontiers in data mining and machine learning. Successful adoption of electronic health records (EHRs) created an explosion in digital clinical data available for analysis, but progress in machine learning for healthcare research has been difficult to measure because of the absen…
Model identifies key problems in HIV patients' records.
problem Complex and time-consuming task of identifying patient problems from electronic health records.
method Unsupervised phenotyping approach that jointly learns phenotypes from structured and unstructured data.
result Learned phenotypes and their relatedness are clinically valid and surpass existing methods.
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 condition, and is a crucial part of secondary analysis of healthcare data. We ass…
Develops methods for GWAS of high dimensional phenotypes using summary statistics.
problem Lack of methods to model pleiotropy in multi-phenotype GWAS.
method Bayesian inference model using summary statistics, fast computation, and biologically informed priors.
result Demonstrates utility in metabolite GWAS with interpretable pathway-level inference.
ODBAE detects complex phenotypes in biological data.
problem Challenges in identifying complex phenotypes from high-dimensional biological data.
method ODBAE (Outlier Detection using Balanced Autoencoders) identifies influential and high leverage points in latent relationships among multiple physiological parameters.
result ODBAE reveals novel metabolism-related genes and uncovers coordinated abnormalities across metabolic indicators.
A looming question that must be solved before robotic plant phenotyping capabilities can have significant impact to crop improvement programs is scalability. High Throughput Phenotyping (HTP) uses robotic technologies to analyze crops in order to determine species with favorable traits, however, the current practices r…
Traditional anatomical analyses captured only a fraction of real phenomic information. Here, we apply deep learning to quantify total phenotypic similarity across 2468 butterfly photographs, covering 38 subspecies from the polymorphic mimicry complex of and . E…
The recent adoption of Electronic Health Records (EHRs) by health care providers has introduced an important source of data that provides detailed and highly specific insights into patient phenotypes over large cohorts. These datasets, in combination with machine learning and statistical approaches, generate new opport…
We develop a model to cluster time-series data with interval censoring, improving disease phenotyping.
problem Noise and interval censoring hinder clustering in disease phenotyping.
method Deep generative, continuous-time model that clusters time-series data while correcting for censorship.
result Our model corrects for interval censoring and recovers known clinical subtypes.
Unsupervised learning with GLRM feature selection reveals novel traumatic brain injury phenotypescs.LG
Baseline injury categorization is important to traumatic brain injury (TBI) research and treatment. Current categorization is dominated by symptom-based scores that insufficiently capture injury heterogeneity. In this work, we apply unsupervised clustering to identify novel TBI phenotypes. Our approach uses a generaliz…
The increased affordability of whole genome sequencing has motivated its use for phenotypic studies. We address the problem of learning interpretable models for discrete phenotypes from whole genomes. We propose a general approach that relies on the Set Covering Machine and a k-mer representation of the genomes. We sho…
Understanding the phenotypic drug response on cancer cell lines plays a vital rule in anti-cancer drug discovery and re-purposing. The Genomics of Drug Sensitivity in Cancer (GDSC) database provides open data for researchers in phenotypic screening to test their models and methods. Previously, most research in these ar…
New method phenotypes sleep apnea patients using time series analysis.
problem Traditional diagnosis of sleep apnea is insufficient for capturing its multi-faceted outcomes.
method Fuzzy clustering in time and frequency domains, and persistent homology for topological analysis.
result Phenotyping patients improves understanding of sleep apnea.
Machine learning predicts plant phenotypes from soil microbiome data.
problem Predicting plant phenotypes from soil microbiome data.
method Two models (random forest and Bayesian neural network) were used to predict plant phenotypes from soil properties and microbial population density.
result Human decisions and normalization strategies significantly impact model performance.
Computable Phenotypes to Characterize Changing Patient Brain Dysfunction in the Intensive Care Unitq-bio.QM
Study developed phenotypes for ICU patients' brain dysfunction states.
problem Underdiagnosis of acute brain dysfunction in ICU patients.
method Created algorithms to quantify and cluster brain dysfunction states.
result Developed three phenotypes of ICU patients' brain dysfunction states.
As an increasing number of genome-wide association studies reveal the limitations of attempting to explain phenotypic heritability by single genetic loci, there is growing interest for associating complex phenotypes with sets of genetic loci. While several methods for multi-locus mapping have been proposed, it is often…
Probabilistically Sampled and Spectrally Clustered Plant Genotypes using Phenotypic Characteristicscs.LG
New algorithm improves plant breeding by clustering soybean genotypes more accurately and efficiently.
problem Low accuracy and high computational complexity in clustering plant genotypes.
method Spectral Clustering with Pivotal Sampling for phenotypic data.
result Our algorithm achieves substantially more accuracy than existing methods.