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arXiv research

A locally-built, LLM-digested index of recent arXiv papers in quant finance, geometry/topology, and statistical ML — keyword search served straight from SQLite on this machine.

168,695 papers · 148 categories

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12243547 · Dec 201819922001200920172026
48 results for patient phenotyping

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…

2017-03-25abs ↗pdf ↗

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.

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.

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 …

2018-12-07abs ↗pdf ↗

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…

2017-04-11abs ↗pdf ↗

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.

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.

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.

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 …

2017-02-04abs ↗pdf ↗

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.

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.

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…

2018-03-12abs ↗pdf ↗

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…

2018-11-28abs ↗pdf ↗

Diagnosing an inherited disease often requires identifying the pattern of inheritance in a patient's family. We represent family trees with genetic patterns of inheritance using hypergraphs and latent state space models to provide explainable inheritance pattern predictions. Our approach allows for exact causal inferen…

2018-12-01abs ↗pdf ↗

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.

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.

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.

Activity and motion analysis has the potential to be used as a diagnostic tool for mental disorders. However, to-date, little work has been performed in turning stratification measures of activity into useful symptom markers. The research presented in this thesis has focused on the identification of objective activity …

2019-08-14abs ↗pdf ↗

VAEs struggle with surjective multimodal data, especially class labels describing images.

problem VAEs struggle to capture variability in surjective multimodal data.
method Theoretical and empirical demonstration of VAEs with a mixture of experts posterior.
result VAEs with a mixture of experts posterior can disregard variation in surjective multimodal data.

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…

2015-06-29abs ↗pdf ↗

Case vs control comparisons have been the classical approach to the study of neurological diseases. However, most patients will not fall cleanly into either group. Instead, clinicians will typically find patients that cannot be classified as having clearly progressed into the disease state. For those subjects, very lit…

2012-07-19abs ↗pdf ↗

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.

Identifying measurable genetic indicators (or biomarkers) of a specific condition of a biological system is a key element of precision medicine. Indeed it allows to tailor diagnostic, prognostic and treatment choice to individual characteristics of a patient. In machine learning terms, biomarker discovery can be framed…

2016-07-27abs ↗pdf ↗

Reliable identification of molecular biomarkers is essential for accurate patient stratification. While state-of-the-art machine learning approaches for sample classification continue to push boundaries in terms of performance, most of these methods are not able to integrate different data types and lack generalization…

2018-03-29abs ↗pdf ↗