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Martinez-Enguita, D.

Publications and source records attributed to Martinez-Enguita, D..

4 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.

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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.

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Data-driven representations using deep network-coherent methylation autoencoders to identify robust disease and risk factor signatures

Data analysis in systems medicine often employs knowledge-driven approaches, which leverage prior biological insights to guide and inform the study of large omic sets. However, the current state of knowledge in biology is still partial and biased. For example, cancer-associated genes are overrepresented in protein interaction networks. As a result, these approaches may fail to capture novel or unexpected phenomena. In this study, we present a data-driven workflow for the functional analysis of large DNA methylation data using deep autoencoders with biologically relevant latent embeddings (network-coherent autoencoders, NCAEs). We observed an increasing gene co-localization gradient, consistent with the human interactome, within the learned representation of a deep methylation autoencoder. We showcased the capacity of this coherent compressed space to discover signatures for classification associated with aging, smoking, and disease. We believe this approach can improve the understanding of complex epigenetic processes and help develop more effective diagnostic and therapeutic strategies.

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Systematic GWAS-assessment of disease modules reveals a multi-omic MS module strongly associated with risk factors

BackgroundThere are few (if any) practical guidelines for predictive and falsifiable multi-omics data integration that systematically integrate existing knowledge. Disease modules are popular concepts for interpreting genome-wide studies in medicine but have so far not been systematically evaluated and may lead to corroborating multi-omic modules. MethodsWe assessed eight module identification methods in 57 previously published expression and methylation studies of 19 diseases using GWAS enrichment analysis. Next, we applied the same strategy for multi-omics integration of 19 datasets of multiple sclerosis (MS), and further validated the resulting module using both GWAS and risk-factor associated genes from several independent cohorts. ResultsOur benchmark of modules showed that in immune-associated diseases modules inferred from clique-based methods were the most enriched for GWAS-genes. The multi-omics case study using MS revealed the robust identification of a module of 220 genes. Strikingly, most genes of the module was differentially methylated upon the action of one or several environmental risk factors in MS (n = 217, P = 10-47) and were also independently validated for association with five different risk factors of MS, which further stressed the high genetic and epigenetic relevance of the module for MS. ConclusionWe believe our analysis provides a workflow for selecting modules and our benchmark study may help further improvement of disease module methods. Moreover, we also stress that our methodology is generally applicable for combining and assessing the performance of multi-omics approaches for complex diseases.

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