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Bowler, R.

Publications and source records attributed to Bowler, R..

4 recordsLinked to original sources

MT-LLE: Multi-Task Locally Linear Embedding for Interpretable Disease Modeling from Longitudinal Omics Data

Constructing interpretable disease models from longitudinal omics data is a central challenge in precision medicine. The goal is a low-dimensional representation in which a patient's position encodes their molecular state and clinical severity, and along which disease progression can be read directly. Existing dimensionality reduction methods (e.g., UMAP, Variational Autoencoders) fall short of this goal: they optimize a single generic objective and are blind to clinical labels and to the temporal ordering of measurements. Consequently, trajectory inference is typically applied after the fact to an embedding that was never optimized to reveal progression, decoupling the representation from disease dynamics. Manifold learning offers a natural route to such representations, and we build on Locally Linear Embedding (LLE) to preserve the local geometry of the omics data (i.e., keeping molecularly similar patients close together in the low-dimensional space). Geometry alone, however, yields a space that is faithful to molecular similarity yet uninformative about clinical severity and progression. We therefore recast the problem as multi-task learning: MT-LLE jointly optimizes five objectives: geometric reconstruction, supervised organization by clinical stage, embedding and phenotype forecasting, and clustering. Because naively combining such heterogeneous objectives induces gradient conflicts that distort the molecular geometry, an embedded reinforcement learning agent dynamically schedules their weights during training, establishing global geometry before refining clinical boundaries. Across two independent Chronic Obstructive Pulmonary Disease (COPD) cohorts (SPIROMICS and COPDGene), MT-LLE deliberately relaxes exact geometric reconstruction, by a modest margin, in exchange for substantial gains in clinical structure. On held-out patients, a linear model reads disease severity (GOLD stage, 0--4) from the MT-LLE embedding 35--40\% more accurately than from standard dimensionality reduction (0.53 vs.\ 0.38 F1-Macro). The gap is starker for progression: forecasting a patient's next-visit severity from their trajectory reaches 0.38 F1-Macro, while unsupervised baselines sit near zero (0.06--0.09 F1-Macro), a temporal signal those methods fail to capture. To test whether the reinforcement learning agent earns its place, we compared it against a fixed schedule that imposes the same ordering of objectives but cannot adapt during training; the learned agent outperforms it by 13--20\% across clinical metrics, showing the gains come from adapting the weights to how training unfolds, not merely from ordering the objectives correctly, and at no cost to geometric fidelity. Beyond these quantitative gains, the manifold supports complementary analyses that surface structure invisible to standard staging: static phenotyping isolates subjects with active molecular pathology despite preserved lung function; trajectory inference maps two mechanistically distinct progression axes (inflammatory fibrosis and pan-immune activation); and kinematic analysis of each patient's speed and acceleration identifies subjects whose molecular trajectories accelerate ahead of detectable spirometric decline.

bioinformatics↗

PathIntegrate: Multivariate modelling approaches for pathway-based multi-omics data integration

As terabytes of multi-omics data are being generated, there is an ever-increasing need for methods facilitating the integration and interpretation of such data. Current multi-omics integration methods typically output lists, clusters, or subnetworks of molecules related to an outcome. Even with expert domain knowledge, discerning the biological processes involved is a time-consuming activity. Here we propose PathIntegrate, a method for integrating multi-omics datasets based on pathways, designed to exploit knowledge of biological systems and thus provide interpretable models for such studies. PathIntegrate employs single-sample pathway analysis to transform multi-omics datasets from the molecular to the pathway-level, and applies a predictive single-view or multi-view model to integrate the data. Model outputs include multi-omics pathways ranked by their contribution to the outcome prediction, the contribution of each omics layer, and the importance of each molecule in a pathway. Using semi-synthetic data we demonstrate the benefit of grouping molecules into pathways to detect signals in low signal-to-noise scenarios, as well as the ability of PathIntegrate to precisely identify important pathways at low effect sizes. Finally, using COPD and COVID-19 data we showcase how PathIntegrate enables convenient integration and interpretation of complex high-dimensional multi-omics datasets. The PathIntegrate Python package is available at https://github.com/cwieder/PathIntegrate. Author summaryOmics data, which provides a readout of the levels of molecules such as genes, proteins, and metabolites in a sample, is frequently generated to study biological processes and perturbations within an organism. Combining multiple omics data types can provide a more comprehensive understanding of the underlying biology, making it possible to piece together how different molecules interact. There exist many software packages designed to integrate multi-omics data, but interpreting the resulting outputs remains a challenge. Placing molecules into the context of biological pathways enables us to better understand their collective functions and understand how they may contribute to the condition under study. We have developed PathIntegrate, a pathway-based multi-omics integration tool which helps integrate and interpret multi-omics data in a single step using machine learning. By integrating data at the pathway rather than the molecular level, the relationships between molecules in pathways can be strengthened and more readily identified. PathIntegrate is demonstrated on Chronic Obstructive Pulmonary Disease and COVID-19 metabolomics, proteomics, and transcriptomics datasets, showcasing its ability to efficiently extract perturbed multi-omics pathways from large-scale datasets.

bioinformatics↗

PaIRKAT: A pathway integrated regression-based kernel association test with applications to metabolomics and COPD phenotypes

High-throughput data such as metabolomics, genomics, transcriptomics, and proteomics have become familiar data types within the "-omics" family. For this work, we focus on subsets that interact with one another and represent these "pathways" as graphs. Observed pathways often have disjoint components, i.e. nodes or sets of nodes (metabolites, etc.) not connected to any other within the pathway which notably lessens testing power. In this paper we propose the Pathway Integrated Regression-based Kernel Association Test (PaIRKAT), a new kernel machine regression method for incorporating known pathway information into the semi-parametric kernel regression framework. This paper also contributes an application of a graph kernel regularization method for overcoming disconnected pathways. By incorporating a regularized or "smoothed" graph into a score test, PaIRKAT is capable of providing more powerful tests for associations between biological pathways and phenotypes of interest and will be helpful in identifying novel pathways for targeted clinical research. We evaluate this method through several simulation studies and an application to real metabolomics data from the COPDGene study. Our simulation studies illustrate the robustness of this method to incorrect and incomplete pathway knowledge, and the real data analysis shows meaningful improvements of testing power in pathways. PaIRKAT was developed for application to metabolomic pathway data, but the techniques are easily generalizable to other data sources with a graph-like structure. Author SummaryPaIRKAT is a tool for improving testing power on high dimensional data by including graph topography in the kernel machine regression setting. Studies on high dimensional data can struggle to include the complex relationships between variables. The semi-parametric kernel machine regression model is a powerful tool for capturing these types of relationships. They provide a framework for testing for relationships between outcomes of interest and high dimensional data such as metabolomic, genomic, or proteomic pathways. Our paper proposes PaIRKAT, a method for including known biological connections between high dimensional variables by representing them as edges of graphs or networks. It is common for nodes (e.g. metabolites) to be disconnected from all others within the graph, which leads to meaningful decreases in testing power whether or not the graph information is included. We include a graph regularization or smoothing approach for managing this issue. We demonstrate the benefits of this approach through simulation studies and an application to the metabolomic data from the COPDGene study.

bioinformatics↗

ezTrack: An open-source video analysis pipeline for the investigation of animal behavior

Tracking small animal behavior by video is one of the most common tasks in the fields of neuroscience and psychology. Although commercial software exists for the execution of this task, commercial software often presents enormous cost to the researcher, and can also entail purchasing specific hardware setups that are not only expensive but lack adaptability. Moreover, the inaccessibility of the code underlying this software renders them inflexible. Alternatively, available open source options frequently require extensive model training and can be challenging for those inexperienced with programming. Here we present an open source and platform independent set of behavior analysis pipelines using interactive Python (iPython/Jupyter Notebook) that researchers with no prior programming experience can use. Two modules are described. One module can be used for the positional analysis of an individual animal across a session (i.e., location tracking), amenable to a wide range of behavioral tasks including conditioned place preference, water maze, light-dark box, open field, and elevated plus maze, to name but a few. A second module is described for the analysis of conditioned freezing behavior. For both modules, a range of interactive plots and visualizations are available to confirm that chosen parameters produce results that conform to the users approval. In addition, batch processing tools for the fast analysis of multiple videos is provided, and frame-by-frame output makes aligning the data with neural recording data simple. Lastly, options for cropping video frames to mitigate the influence of fiberoptic/electrophysiology cables, analyzing specified portions of time in a video, and defining regions of interest, can be implemented with ease.

neuroscience↗