MAGIC uncovers disease heterogeneity across brain scales.
problem Understanding distinct subtypes of brain diseases at different spatial scales.
method Multi-scale Heterogeneity Analysis and Clustering (MAGIC) using semi-supervised clustering.
result Two main subtypes of AD identified with distinct atrophy patterns.
Alzheimer's disease (AD) is a degenerative brain disease impairing a person's ability to perform day to day activities. The clinical manifestations of Alzheimer's disease are characterized by heterogeneity in age, disease span, progression rate, impairment of memory and cognitive abilities. Due to these variabilities, …
Smile-GANs clusters brain MRI scans to reveal disease subtypes and progression.
problem Understanding disease heterogeneity in brain MRI scans.
method Generative Adversarial Networks (GANs) for semi-supervised clustering.
result Discovered four subtypes of Alzheimer's and prodromal phases, with two progressive pathways.
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…
Proposes a new method for medical diagnosis using network-based representation learning.
problem Improving medical diagnosis accuracy through better data representation.
method Heterogeneous network-based model and modified metapath2vec algorithm for learning latent node representations.
result Significant performance boost in symptom/disease classification and disease prediction tasks.
Deep Belief Network predicts lncRNA-disease associations with high accuracy.
problem Accurately identifying lncRNA-disease associations to understand lncRNA functionality and disease mechanism.
method Proposes a DBN-based model using heterogeneous networks and DBN for feature learning.
result Obtained AUC of 0.96 and AUPR of 0.967 on standard dataset.
CRL approach improves understanding of heterogeneous treatment effects in complex diseases.
problem Estimating heterogeneous treatment effects in complex diseases.
method Causal rule learning (CRL) workflow consisting of rule discovery, selection, and analysis.
result CRL outperforms other methods in providing interpretable estimates of HTE.
HIP method extended to multi-class, Poisson, and Zero-Inflated Poisson outcomes with an R Shiny app.
problem Subgroup heterogeneity in complex diseases like COPD.
method Integrating multiple data views while accounting for subgroup heterogeneity.
result Identified common and subgroup-specific markers of exacerbation frequency in males and females.
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.
VEGN uses graph neural networks to predict disease-causing mutations from genetic variants.
problem Identifying disease-causing mutations from millions of genetic variants.
method VEGN employs a graph neural network on a heterogeneous graph of genes and variants, learning gene-gene interactions.
result VEGN outperforms existing state-of-the-art models in variant effect prediction.
Unified framework improves gene prioritization in disease studies.
problem Identifying genes involved in diseases using heterogeneous biological data.
method Network propagation-based gene prioritization with integrated biological information.
result Significant improvements in prioritizing genes not identified by traditional methods.
SVEHNN explains DNN diagnoses of Alzheimer's disease from neuroanatomy and biomarkers.
problem Interpreting deep neural networks for medical diagnosis, especially in the clinic.
method Shapley Value Explanation of Heterogeneous Neural Networks (SVEHNN) for local explanations.
result SVEHNN provides interpretable explanations for DNN diagnoses with reduced runtime.
Deep learning model creates patient representations for scalable EHR-based stratification.
problem Challenges in summarizing and representing patient data from EHRs prevent scalable stratification analysis.
method Unsupervised framework based on deep learning (ConvAE) using word embeddings, CNNs, and autoencoders.
result ConvAE significantly outperformed baselines in clustering diverse patient cohorts, identifying clinically relevant subtypes.
Paper addresses data heterogeneity in federated learning for CoxPH models in healthcare.
problem Data heterogeneity in federated learning of CoxPH models for healthcare.
method Feature-based clustering and event-based reporting strategy.
result Enhanced model accuracy and performance in federated survival analysis.
Longitudinal patient data has the potential to improve clinical risk stratification models for disease. However, chronic diseases that progress slowly over time are often heterogeneous in their clinical presentation. Patients may progress through disease stages at varying rates. This leads to pathophysiological misalig…
Medical researchers are coming to appreciate that many diseases are in fact complex, heterogeneous syndromes composed of subpopulations that express different variants of a related complication. Time series data extracted from individual electronic health records (EHR) offer an exciting new way to study subtle differen…
Hidden Markov jump processes are an attractive approach for modeling clinical disease progression data because they are explainable and capable of handling both irregularly sampled and noisy data. Most applications in this context consider time-homogeneous models due to their relative computational simplicity. However,…
Geometric deep learning provides a principled and versatile manner for the integration of imaging and non-imaging modalities in the medical domain. Graph Convolutional Networks (GCNs) in particular have been explored on a wide variety of problems such as disease prediction, segmentation, and matrix completion by levera…
Disease-gene prediction (DGP) refers to the computational challenge of predicting associations between genes and diseases. Effective solutions to the DGP problem have the potential to accelerate the therapeutic development pipeline at early stages via efficient prioritization of candidate genes for various diseases. In…
Proposes a new Alzheimer's disease simulator for causal effect estimation.
problem Lack of suitable benchmarks for evaluating causal effect estimators in real-world healthcare data.
method Developed a simulator of Alzheimer's disease using ADNI dataset, incorporating various parameters to model complexities.
result Compared estimators of average and conditional treatment effects using the new simulator.
Longitudinal study designs are indispensable for studying disease progression. Inferring covariate effects from longitudinal data, however, requires interpretable methods that can model complicated covariance structures and detect nonlinear effects of both categorical and continuous covariates, as well as their interac…
Prediction of the future trajectory of a disease is an important challenge for personalized medicine and population health management. However, many complex chronic diseases exhibit large degrees of heterogeneity, and furthermore there is not always a single readily available biomarker to quantify disease severity. Eve…
Motivation: The rapid growth of diverse biological data allows us to consider interactions between a variety of objects, such as genes, chemicals, molecular signatures, diseases, pathways and environmental exposures. Often, any pair of objects--such as a gene and a disease--can be related in different ways, for example…
Framework assesses variable importance for heterogeneous treatment effects.
problem High-risk domains need reliable methods to assess treatment effect heterogeneity.
method Inferential framework based on Shapley values and semiparametric theory.
result Valid inference on variable importance for heterogeneous treatment effects.
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.
Framework harmonizes EHR data across institutions for better analysis.
problem Heterogeneity of medical codes and terminologies hinder EHR data analysis.
method MASH (Multi-source Automated Structured Hierarchy) uses neural optimal transport and learned hyperbolic embeddings to align and structure EHR data.
result MASH generates interpretable hierarchical graphs for unstructured local laboratory codes.
Framework integrates mental disorder measurements for personalized treatment.
problem Optimizing treatment for mental disorders with latent mental states and heterogeneity.
method Measurement theory and multi-layer neural network for complex treatment effects.
result Learned treatment policies outperform alternatives on heterogeneous treatment effects.
MOTGNN integrates multi-omics data for disease classification with improved accuracy and interpretability.
problem Challenges in integrating multi-omics data due to high dimensionality, heterogeneity, and lack of reliable interaction networks.
method MOTGNN uses XGBoost for graph construction, modality-specific GNNs for representation learning, and a deep feedforward network for cross-omics integration.
result MOTGNN outperforms state-of-the-art baselines by 5-10% in accuracy, ROC-AUC, and F1-score across three real-world disease datasets.
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…
New method learns from subgroup feedback in complex systems.
problem Optimizing complex systems with heterogeneous components.
method Decomposed Gaussian Process (GP) regression and optimization algorithm.
result Proved lower variance and improved accuracy in subgroup feedback.
Sparse GFA identifies disease factors in FTD subgroups.
problem Heterogeneity in neurological disorders hinders understanding and treatment.
method Sparse Group Factor Analysis (GFA) with regularised horseshoe priors.
result Identified latent disease factors differentially expressed in FTD subgroups.
New method predicts AD progression using MEG brain networks.
problem Early diagnosis and prediction of Alzheimer's disease progression.
method MG2G, a deep learning method that maps brain networks into a latent space.
result MG2G detects subtle brain connectivity patterns and predicts AD progression.
SCC clusters data with supervising variables for better interpretation.
problem Challenging interpretations in unsupervised clustering.
method Joint convex fusion penalty using supervising and unlabeled data.
result Discover new genes and subtypes of Alzheimer's Disease.
Bayesian meta-learning improves health prediction models across similar diseases.
problem Inter- and intra-task variability in healthcare predictions due to disease heterogeneity and patient differences.
method Bayesian meta-learning approach that models task similarity to mitigate negative transfer and improve generalizability.
result Significant generalizability improvements in stroke prediction tasks using electronic health record data.
Graph Attention Networks predict disease state from single-cell data.
problem Predicting disease state from single-cell data.
method Graph Attention Networks (GAT) for learning from both features and graph structures.
result Achieved 92% accuracy in predicting MS from single-cell data.
Today, despite decades of developments in medicine and the growing interest in precision healthcare, vast majority of diagnoses happen once patients begin to show noticeable signs of illness. Early indication and detection of diseases, however, can provide patients and carers with the chance of early intervention, bett…
Simulation framework assesses ROI of chronic disease adherence and policy timing.
problem Uncertainty in ROI of adherence-enhancing interventions under heterogeneous patient behavior and socioeconomic variation.
method Simulation-based framework integrating disease progression, time-varying adherence, and policy timing.
result Early and adaptive interventions yield highest ROI, exceeding 20% under certain conditions.
Hierarchical CNNs improve diagnosis of GI diseases from histopathological images.
problem Diagnosing GI diseases from histopathological images is challenging due to heterogeneity and shared features.
method Embedded a class hierarchy into a VGGNet to address the hierarchical structure of GI diseases.
result The hierarchical model achieved better results than a flat model for multi-category diagnosis of GI disorders.
Enhancing spectral embedding for low-dimensional embeddings in rare disease cohorts
problem Representing clinical concepts and patients in electronic health records
method Spectral-based unsupervised learning with flexible knowledge transfer
result Outperforms competing approaches in challenging scenarios
Omics-GAN uses GANs to generate synthetic multi-omics data for improved disease prediction.
problem Limited sample sizes, noise, and heterogeneity in multi-omics data reduce predictive power.
method Omics-GAN is a GAN-based framework that generates high-quality synthetic multi-omics profiles.
result Synthetic datasets consistently improved prediction accuracy compared to original omics profiles.
Speech datasets for identifying Alzheimer's disease (AD) are generally restricted to participants performing a single task, e.g. describing an image shown to them. As a result, models trained on linguistic features derived from such datasets may not be generalizable across tasks. Building on prior work demonstrating th…
Electronic health records (EHR) are increasingly being used for constructing disease risk prediction models. Feature engineering in EHR data however is challenging due to their highly dimensional and heterogeneous nature. Low-dimensional representations of EHR data can potentially mitigate these challenges. In this pap…
Developed shrinkage methods for Poisson regression models with experts to handle multicollinearity.
problem Multicollinearity in Poisson regression models with experts.
method Ridge and Liu-type shrinkage methods.
result Shrinkage methods offer more reliable estimates for coefficients in multicollinearity.
CASCADE improves uncertainty communication in Parkinson's disease medication management.
problem Uncertainty in clinical decision-making for Parkinson's disease patients.
method CASCADE uses a novel conformal prediction framework to adaptively scale prediction intervals based on classification uncertainty.
result CASCADE produces more efficient and robust prediction intervals for Parkinson's disease patients.
Precision medicine aims for personalized prognosis and therapeutics by utilizing recent genome-scale high-throughput profiling techniques, including next-generation sequencing (NGS). However, translating NGS data faces several challenges. First, NGS count data are often overdispersed, requiring appropriate modeling. Se…
AI detects heart disease from ECGs with improved interpretability and performance.
problem Undiagnosed structural heart disease due to high cost and accessibility of echocardiography.
method Generalized additive model integrating clinically meaningful ECG predictors.
result Improved AUROC, AUPRC, and F1 score compared to deep-learning baselines.
New algorithms for clustering and synthetic data generation of heterogeneous tabular datasets.
problem Clustering and generating synthetic data from heterogeneous tabular datasets with hidden cluster structure.
method Developed MMM and MMMsynth algorithms for clustering and synthetic data generation.
result MMMsynth algorithm outperforms other literature tabular-data generators and approaches real data performance.
With the arrival of the big data era, more and more data are becoming readily available in various real-world applications and those data are usually highly heterogeneous. Taking computational medicine as an example, we have both Electronic Health Records (EHR) and medical images for each patient. For complicated disea…