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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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.
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.
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 diagnosis and ii) to identify associations between genetic and phenotypical data. Thes…
ENN method uses expectile regression for genetic data analysis of complex diseases.
problem Discover additional genetic variants contributing to complex diseases.
method Developed an expectile neural network (ENN) method integrating expectile regression and neural networks.
result ENN method outperforms existing expectile regression in discovering genetic variants predisposing to sub-populations.
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…
Second generation sequencing technologies are being increasingly used for genetic association studies, where the main research interest is to identify sets of genetic variants that contribute to various phenotype. The phenotype can be univariate disease status, multivariate responses and even high-dimensional outcomes.…
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 …
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…
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.
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.
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…
We propose a non-parametric regression methodology, Random Forests on Distance Matrices (RFDM), for detecting genetic variants associated to quantitative phenotypes representing the human brain's structure or function, and obtained using neuroimaging techniques. RFDM, which is an extension of decision forests, requires…
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…
DNA Methylation has been the most extensively studied epigenetic mark. Usually a change in the genotype, DNA sequence, leads to a change in the phenotype, observable characteristics of the individual. But DNA methylation, which happens in the context of CpG (cytosine and guanine bases linked by phosphate backbone) dinu…
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.
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…
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 Sparse Graph-Structured Lasso Mixed Model for Genetic Association with Confounding Correctioncs.LG
While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the complex structure of genotypic and phenotypic data. For example, geneticists hav…
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…
Early detection of Alzheimer's disease (AD) and identification of potential risk/beneficial factors are important for planning and administering timely interventions or preventive measures. In this paper, we learn a disease model for AD that combines genotypic and phenotypic profiles, and cognitive health metrics of pa…
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…
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.
Models of Disease Spectrastat.ML
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…
New KNN test improves association analysis of high-dimensional sequencing data.
problem Challenges in using neural networks for high-dimensional sequencing data analysis.
method Kernel-based neural network (KNN) test for complex association analysis.
result KNN test outperforms SKAT in detecting non-linear and interaction effects.
Genome-wide association studies have proven to be essential for understanding the genetic basis of disease. However, many complex traits---personality traits, facial features, disease subtyping---are inherently high-dimensional, impeding simple approaches to association mapping. We developed a nonparametric Bayesian re…
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…
Cluster analysis aims at separating patients into phenotypically heterogenous groups and defining therapeutically homogeneous patient subclasses. It is an important approach in data-driven disease classification and subtyping. Acute coronary syndrome (ACS) is a syndrome due to sudden decrease of coronary artery blood f…
Graphs are widely used as a natural framework that captures interactions between individual elements represented as nodes in a graph. In medical applications, specifically, nodes can represent individuals within a potentially large population (patients or healthy controls) accompanied by a set of features, while the gr…
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…
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…
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.
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…
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…
ICAM: Interpretable Classification via Disentangled Representations and Feature Attribution Mappingcs.LG
ICAM creates interpretable feature attribution maps for brain images.
problem Challenges in predicting class relevance from brain images due to heterogeneity and background variation.
method A VAE-GAN framework for disentangling class relevance from background features.
result FA maps generated by ICAM outperform baseline methods and support phenotype variation exploration.
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.
Finding the needle in high-dimensional haystack: A tutorial on canonical correlation analysisstat.ML
Since the beginning of the 21st century, the size, breadth, and granularity of data in biology and medicine has grown rapidly. In the example of neuroscience, studies with thousands of subjects are becoming more common, which provide extensive phenotyping on the behavioral, neural, and genomic level with hundreds of va…
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.
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…
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…
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.
Sparse Functional Singular Value Decomposition for Biclustering and Triclustering Longitudinal Datastat.ML
Unified method for discovering biclusters and triclusters in longitudinal data.
problem High-dimensional, sparsely sampled, irregularly observed longitudinal data.
method Tri-SfSVD, a unified sparse functional Singular Value Decomposition framework.
result Identified localized structures at the subject, subject-feature, and subject-feature-time levels.
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.
BayesMR estimates causal effects and directionality from genetic data.
problem Challenges in finding good genetic instruments and estimating causal effects.
method Bayesian Mendelian randomization approach that accounts for pleiotropy and reverse causation.
result BayesMR provides a posterior distribution over causal effects and uncertainty.
Associating genetic markers with a multidimensional phenotype is an important yet challenging problem. In this work, we establish the equivalence between two popular methods: kernel-machine regression (KMR), and kernel distance covariance (KDC). KMR is a semiparametric regression frameworks that models the covariate ef…
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…
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.