bioRxiv Science⌕ Search

Biology subjects

Konigsberg, I. R.

Publications and source records attributed to Konigsberg, I. R..

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↗

Multi-Omic Signatures of Sarcoidosis and Progression in Bronchoalveolar Lavage Cells

IntroductionSarcoidosis is a heterogeneous, granulomatous disease that can prove difficult to diagnose, with no accurate biomarkers of disease progression. Therefore, we profiled and integrated the DNA methylome, mRNAs, and microRNAs to identify molecular changes associated with sarcoidosis and disease progression that might illuminate underlying mechanisms of disease and potential genomic biomarkers. MethodsBronchoalveolar lavage cells from 64 sarcoidosis subjects and 16 healthy controls were used. DNA methylation was profiled on Illumina HumanMethylationEPIC arrays, mRNA by RNA-sequencing, and miRNAs by small RNA-sequencing. Linear models were fit to test for effect of diagnosis and phenotype, adjusting for age, sex, and smoking. We built a supervised multi-omics model using a subset of features from each dataset. ResultsWe identified 46,812 CpGs, 1,842 mRNAs, and 5 miRNAs associated with sarcoidosis versus controls and 1 mRNA, SEPP1 - a protein that supplies selenium to cells, associated with disease progression. Our integrated model emphasized the prominence of the PI3K/AKT1 pathway in sarcoidosis, which is important in T cell and mTOR function. Novel immune related genes and miRNAs including LYST, RGS14, SLFN12L, and hsa-miR-199b-5p, distinguished sarcoidosis from controls. Our integrated model also demonstrated differential expression/methylation of IL20RB, ABCC11, SFSWAP, AGBL4, miR-146a-3p, and miR-378b between non-progressive and progressive sarcoidosis. ConclusionsLeveraging the DNA methylome, transcriptome, and miRNA-sequencing in sarcoidosis BAL cells, we detected widespread molecular changes associated with disease, many which are involved in immune response. These molecules may serve as diagnostic/prognostic biomarkers and/or drug targets, although future testing will be required for confirmation.

genomics↗