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 …
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48 results for “clinical phenotypes”
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.
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.
Automatically extracts phenotypes from cancer clinical notes for genetic studies.
problem Lack of structured patient representations in EHRs.
method Clustering of medical terms and sentences in clinical notes.
result 341 significant associations between clinical features and somatic mutations.
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…
TASTE combines static and temporal data for phenotyping EHRs.
problem Phenotyping EHRs with both static and temporal data.
method Jointly models static and temporal tensors using PARAFAC2 and non-negative matrix factorization, alternatingly solving sub-problems.
result TASTE outperforms existing methods in speed and clinical meaningfulness of phenotypes.
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.
UMAP visualizes patient phenotypes from EHR data for emergency triage.
problem Interpreting high-dimensional EHR data for rapid patient triage.
method UMAP for non-linear dimensionality reduction, Gaussian mixture models for clustering.
result UMAP reveals clinically relevant patient phenotypes from EHR data.
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…
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.
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.
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…
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…
Paper models treatment effects by clustering patients with distinct survival characteristics.
problem Estimating treatment efficacy in clinical settings with censored outcomes.
method Latent variable approach to model heterogeneous treatment effects.
result The latent structure can mediate base survival rates and reveal actionable phenotypes.
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…
Objective: To evaluate unsupervised clustering methods for identifying individual-level behavioral-clinical phenotypes that relate personal biomarkers and behavioral traits in type 2 diabetes (T2DM) self-monitoring data. Materials and Methods: We used hierarchical clustering (HC) to identify groups of meals with simila…
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.
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…
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…
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…
DPFact preserves privacy while collaboratively factorizing EHR tensors.
problem Privacy-preserving tensor factorization for EHRs.
method Differential privacy and collaborative learning.
result DPFact achieves higher accuracy and efficiency under privacy constraints.
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.
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.
Probabilistic ML improves healthcare data analysis.
problem Insufficient understanding and incomplete data in healthcare.
method Examination of probabilistic machine learning models for healthcare challenges.
result Probabilistic models enhance healthcare data analysis and model building.
Characterization of a patient clinical phenotype is central to biomedical informatics. ICD codes, assigned to inpatient encounters by coders, is important for population health and cohort discovery when clinical information is limited. While ICD codes are assigned to patients by professionals trained and certified in c…
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…
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.
Fast and cheaper next generation sequencing technologies will generate unprecedentedly massive and highly-dimensional genomic and epigenomic variation data. In the near future, a routine part of medical record will include the sequenced genomes. A fundamental question is how to efficiently extract genomic and epigenomi…
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.
Deep neural networks have shown promising results for various clinical prediction tasks such as diagnosis, mortality prediction, predicting duration of stay in hospital, etc. However, training deep networks -- such as those based on Recurrent Neural Networks (RNNs) -- requires large labeled data, high computational res…
Federated learning improves bioinformatics by sharing data legally.
problem Lack of access to diverse data in bioinformatics.
method Combines data from multiple institutions legally.
result Federated learning accelerates clinical discovery and robust exploration.
AdaptiveNet tackles disease progression prediction in rheumatoid arthritis using deep neural networks.
problem Predicting disease progression in rheumatoid arthritis using clinical data.
method AdaptiveNet, a novel recurrent neural network architecture, that handles multiple lists of different events and missing data.
result AdaptiveNet outperforms classical baselines in disease progression prediction.
A clinical Meta-Dataset from TCGA for multi-task learning.
problem Clinical decision making requires considering multiple factors; current benchmarks lack consistency and variety.
method Developed a Meta-Dataset with 174 tasks from TCGA, using regression and neural networks.
result Demonstrated the feasibility of predicting multiple clinical variables from gene expression data.
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.
In this thesis we present the novel semi-supervised network-based algorithm P-Net, which is able to rank and classify patients with respect to a specific phenotype or clinical outcome under study. The peculiar and innovative characteristic of this method is that it builds a network of samples/patients, where the nodes …
Public benchmark for machine learning models in critical care.
problem Lack of public benchmarks for machine learning in critical care.
method Defined four tasks (mortality prediction, length of stay, phenotyping, decompensation risk) and compared clinical and deep learning models on eICU dataset.
result First public benchmark on multi-centre critical care dataset, comparing clinical models with predictive models.
Antimicrobial resistance is an important public health concern that has implications in the practice of medicine worldwide. Accurately predicting resistance phenotypes from genome sequences shows great promise in promoting better use of antimicrobial agents, by determining which antibiotics are likely to be effective i…
Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with correlated traits. In this study, we propose a new statistical framework called grap…
We investigate the use of self-tracking data and unsupervised mixed-membership models to phenotype endometriosis. Endometriosis is a systemic, chronic condition of women in reproductive age and, at the same time, a highly enigmatic condition with no known biomarkers to monitor its progression and no established staging…
Radiomics identifies subtle cardiac changes in hypertension.
problem Subtle cardiac alterations in hypertension not captured by conventional imaging.
method Combines feature selection and machine learning for identifying structural and tissue changes.
result Radiomics model detects changes beyond conventional imaging.
Unified normative modeling for neuroimaging phenotypes using denoising diffusion models.
problem Discarding multivariate dependence in neuroimaging pipelines.
method Denoising diffusion probabilistic models (DDPMs) with FiLM and SAINT backbones.
result Unified multivariate normative modeling with better calibration and dependence preservation.
Study examines APOE's impact on AD progression using a novel DEBM approach.
problem Understanding APOE's role in AD progression and developing targeted clinical trials.
method Developed a discriminative event-based model (DEBM) and proposed a stratified approach to improve model accuracy.
result Identified APOE carriers' impact on AD progression timeline, aiding clinical trial selection.
The hypothesis that computational models can be reliable enough to be adopted in prognosis and patient care is revolutionizing healthcare. Deep learning, in particular, has been a game changer in building predictive models, thus leading to community-wide data curation efforts. However, due to inherent variabilities in …
Development of interpretable machine learning models for clinical healthcare applications has the potential of changing the way we understand, treat, and ultimately cure, diseases and disorders in many areas of medicine. These models can serve not only as sources of predictions and estimates, but also as discovery tool…
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…
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…
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 …
The analysis of cancer genomic data has long suffered "the curse of dimensionality". Sample sizes for most cancer genomic studies are a few hundreds at most while there are tens of thousands of genomic features studied. Various methods have been proposed to leverage prior biological knowledge, such as pathways, to more…