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Akesson, J.

Publications and source records attributed to Akesson, J..

3 recordsLinked to original sources

Protein-protein interaction priors shape biologically coherent latent spaces for causally concordant cross-omic translation

Deep learning models routinely compress omics into low-dimensional codes, yet many equally accurate embeddings fail to reflect how cells are wired, which limits explanation and causal reasoning. We present a simple, architecture-agnostic approach to make latent spaces biologically legible: a protein-protein interaction (PPI) prior that softly steers autoencoder units to recruit genes that are proximal on the interactome while discouraging redundant reuse. Applied to large DNA methylation ([~]155k) and RNAseq ([~]993k) compendia and to knowledge-driven (STRING), structure-predicted (RoseTTAFold2-PPI), and union interactomes, this objective reorganizes methylation latents into compact, non-overlapping network neighborhoods without sacrificing reconstruction accuracy. The resulting units map cleanly onto biological processes such as cell-cycle control, immune signaling, proteostasis, mitochondrial metabolism, and RNA handling, with a limited, hub-enriched overlap that plausibly bridges modules. We then asked whether this structured geometry transfers downstream. Using paired TCGA cohorts spanning 23 cancers, omic translators trained on these embeddings, especially a shared-latent bidirectional model, outperformed full-matrix baselines in biologically concordant directions (methylation to transcription, genomics to methylation and transcription) and, crucially, inherited the mechanistic imprint of the upstream encoder. Analytical sensitivity mapping showed that translators fed PPI-guided embeddings preferentially learned known cancer drivers and enriched hallmark pathways, whereas accuracy-matched models trained on non-constrained embeddings did not. Thus, the prior not only regularizes but passes forward a functional coordinate system that makes subsequent predictors mechanistically aware. By keeping biology in the loss rather than hard-wiring it into the network, our approach scales to very large cohorts, preserves flexibility for understudied genes, and yields latents that are both performant and interpretable. More broadly, it outlines a practical route to mechanism-anchored representation learning that propagates explanatory structure into downstream tasks, advancing explainable AI for multi-omic analysis and clinical decision support.

bioinformatics↗

System-level health profiling from blood DNA methylation with explainable deep learning

Genome-scale DNA methylation (DNAm) profiles capture organismal physiology, but most predictive models lack transparency and multi-level applicability. Here we develop an explainable framework that quantifies respiratory, cardiovascular, and metabolic status as bounded health scores (0-1) derived from sex-specific clinical reference ranges and disease penalties, and then predicts these scores from whole-blood DNAm. Using Generation Scotland and case-control samples (n = 14,496 individuals), we screened 39 covariates for disease relevance and DNAm predictability, yielding system- relevant panels that were aggregated into scores. We compressed DNAm profiles with a protein-interaction-guided autoencoder, and trained health predictors on 128- dimensional embeddings using fully connected networks. On held-out samples, models reproduced the composite scores with strong rank agreement (Spearman {rho} = 0.87, R2 = 0.71 for respiratory health; {rho} = 0.82, R2 = 0.66 for cardiovascular; {rho} = 0.81, R2 = 0.64 for metabolic) and recover expected population structure in a generally healthy cohort, with clear separation between "single-system low" and "multi-system low" phenotypes, and graded coupling across systems without redundancy. Further, the top features retrieved from each explainable predictor aligned with system biology: airway epithelial repair, hypoxia and inflammatory trafficking for respiratory; endothelial remodeling and cardiomyocyte programs for cardiovascular; glucose-lipid metabolism and metaflammation for metabolic. These results show that DNAm embeddings can yield accurate, transparent, and system-aware health profiling from blood, providing actionable summaries while revealing the molecular processes the models use to infer multi-system status. This approach positions DNAm embeddings plus interpretable penalty targets as a practical bridge from epigenomic signal to system-level triage and is extensible for evaluation in larger, more diverse cohorts.

bioinformatics↗

ComHub: Community predictions of hubs in gene regulatory networks

SummaryHub transcription factors, regulating many target genes in gene regulatory networks (GRNs), play important roles as disease regulators and potential drug targets. However, while numerous methods have been developed to predict individual regulator-gene interactions from gene expression data, few methods focus on inferring these hubs. We have developed ComHub, a tool to predict hubs in GRNs. ComHub makes a community prediction of hubs by averaging over predictions by a compendium of network inference methods. Benchmarking ComHub to the DREAM5 challenge data and an independent data set of human gene expression, proved a robust performance of ComHub over all data sets. Lastly, we implemented ComHub to work with both predefined networks and to do standard network inference, which we believe will make it generally applicable. AvailabilityCode is available at https://gitlab.com/Gustafsson-lab/comhub Contactmika.gustafsson@liu.se, rasmus.magnusson@liu.se

bioinformatics↗