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Kechris, K. J.

Publications and source records attributed to Kechris, K. J..

3 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↗

SmCCNet 2.0: an Upgraded R package for Multi-omics Network Inference

SummarySparse multiple canonical correlation network analysis (SmCCNet) is a machine learning technique for integrating omics data along with a variable of interest (e.g., phenotype of complex disease), and reconstructing multi-omics networks that are specific to this variable. We present the second-generation SmCCNet (SmCCNet 2.0) that adeptly integrates single or multiple omics data types along with a quantitative or binary phenotype of interest. In addition, this new package offers a streamlined setup process that can be configured manually or automatically, ensuring a flexible and user-friendly experience. AvailabilityThis package is available in both CRAN: https://cran.r-project.org/web/packages/SmCCNet/index.html and Github: https://github.com/KechrisLab/SmCCNet under the MIT license. The network visualization tool is available at https://smccnet.shinyapps.io/smccnetnetwork/.

bioinformatics↗

High-Risk Human Papillomavirus E7 Alters Host DNA Methylome And Represses HLA-E Expression In Human Keratinocytes

Human papillomavirus (HPV) infection distinctly alters methylation patterns in HPV-associated cancer. We have recently reported that HPV E7-dependent promoter hypermethylation leads to downregulation of the chemokine CXCL14 and suppression of antitumor immune responses. To investigate the extent of gene expression dysregulated by HPV E7-induced DNA methylation, we analyzed parallel global gene expression and DNA methylation using normal immortalized keratinocyte lines, NIKS, NIKS-16, NIKS-18, and NIKS-16{Delta}E7. We show that expression of the MHC class I genes is downregulated in HPV-positive keratinocytes in an E7-dependent manner. Methylome analysis revealed hypermethylation at a distal CpG island (CGI) near the HLA-E gene in NIKS-16 cells compared to either NIKS cells or NIKS-16{Delta}E7 cells, which lack E7 expression. The HLA-E CGI functions as an active promoter element which is dramatically repressed by DNA methylation. HLA-E protein expression on cell surface is downregulated by high-risk HPV16 and HPV18 E7 expression, but not by low-risk HPV6 and HPV11 E7 expression. Conversely, demethylation at the HLA-E CGI restores HLA-E protein expression in HPV-positive keratinocytes. Because HLA-E plays an important role in antiviral immunity by regulating natural killer and CD8+ T cells, epigenetic downregulation of HLA-E by high-risk HPV E7 may contribute to virus-induced immune evasion during HPV persistence.

immunology↗