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Cornec, D.

Publications and source records attributed to Cornec, D..

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BiomiX 3.0: A user-friendly platform for democratized multi-omics integration with graph-based learning.

Background Multi-omics integration has emerged as a powerful strategy to decode the molecular complexity of biological systems. However, the diversity of available methods, each designed with distinct assumptions, objectives, and computational requirements, makes method selection, usage and interpretation challenging for nonexpert users. Here we present BiomiX 3.0, an updated version of the BiomiX platform that extends its integration capabilities with four additional methods: Similarity Network Fusion (SNF), NEighborhood-based Multi-Omics clustering (NEMO), Data Integration Analysis for Biomarker discovery using Latent variable approaches for Omics studies (DIABLO), and PRAMIGO (Phenotyping netwoRk Application for Multi-omics InteGratiOn), a novel supervised heterogeneous graph transformer (HGT) introduced in this work. Results We benchmarked all five methods, MOFA, DIABLO, SNF, NEMO, and PRAMIGO, on two independent multiomics datasets derived from a Chronic Lymphocytic Leukemia (CLL) cohort comparing IGHV-mutated and unmutated patients, and a pulmonary tuberculosis (PTB) cohort versus healthy controls. Supervised methods (DIABLO, PRAMIGO) consistently achieved higher condition-specific discrimination as measured by the Adjusted Rand Index (ARI) and the Adjusted Mutual Information (AMI). In contrast, unsupervised methods (SNF, NEMO) revealed alternative patient stratifications driven by independent sources of biological variance while MOFA performed in a semi-supervised way occupies an intermediate position, capturing latent factors that explain both disease-associated and orthogonal sources of variance. Systematic gene-centric analysis of the top-ranked features prioritized by each method was supported by manual biological annotation of shared and method-specific signals. Across cohorts, we annotated 154 shared features (116 genes, 38 metabolites) and 60 method-unique features per cohort, demonstrating that no single integration strategy captures the full landscape of biologically relevant signals. In the CLL cohort, shared features spanned B-cell receptor biology, innate immune signaling, RAS/MAPK activation, and epigenetic regulation, while methodunique features revealed supervised-method-specific insights into vesicle trafficking (DIABLO), immune checkpoints (MOFA), and ncRNA regulation (PRAMIGO). In the PTB cohort, a convergent interferon/innate immune signature dominated shared features across all methods. Still, method-unique analysis uncovered DIABLO-specific acylcarnitine metabolic reprogramming, MOFA-specific restoration of lysosomal trafficking, and PRAMIGO-specific {gamma}{delta} T-cell and immunoglobulin repertoire diversity. Across both cohorts, SNF and NEMO proved useful for detecting biological and technical sources of variation that were orthogonal to the primary condition of interest. Ultimately, PRAMIGO uniquely enables the construction of heterogeneous graphs modeling cross-modal molecular interactions, uncovering epigenetic co-regulation programs in CLL and multi-omics inflammatory modules in PTB that are difficult to identify using conventional integration approaches. Conclusions BiomiX 3.0 provides a graphical user interface (GUI) multi-method integration environment that democratizes access to state-of-the-art multi-omics analysis. By combining both unsupervised and supervised integration strategies within a unified platform and introducing graph-based learning through PRAMIGO, BiomiX 3.0 enables researchers across disciplines with complementary tools to interrogate the biological sources of variation in their data, without requiring bioinformatics expertise.

bioinformatics↗

FloREN: Decoding Immune Regulatory Networks through Interpretable Graph Transformer Patient Representations.

Single-cell RNA sequencing (scRNA-seq) enables detailed characterization of cellular heterogeneity, yet understanding the full cellular and regulatory environment of complex tissues remains challenging. In the era of large single-cell atlases, this technology has become increasingly accessible, and datasets have grown in scale and statistical power. As a result, sample representation methods have emerged as a promising strategy to summarize patient-level biological variation. However, most existing approaches rely on unsupervised learning frameworks with ambiguous biological interpretability. Here we present a Framework for Learning Over REgulatory-Embedding Networks (FloREN), a supervised and interpretable sample representation method. FloREN models single-cell data as a heterogeneous network integrating cells and genes together with gene regulatory and cell-cell communication relationships. Through condition-aware embeddings and interpretable attention networks, FloREN enables improved sample stratification and biomarker discovery. In addition, the framework supports downstream analyses that found specific immune network mechanisms in immune-mediated inflammatory diseases (IMIDs).

bioinformatics↗

BiomiX-Driven Multi-Omics Integration of PRECISESADS Data Reveals Lysophosphatidic Acid and Metabolic Pathway Signatures in B Cells and Immune Macroenvironment in Sjogren's Disease

ObjectiveSjogrens disease (SjD) is a systemic autoimmune disorder characterized by lymphocytic infiltration of exocrine glands, resulting in xerostomia, keratoconjunctivitis sicca, fatigue, arthralgia, and systemic organ involvement. This study aimed to characterize the metabolic and immune dysregulation of SjD using a multi-omics approach, focusing on the metabolic environment and B-cell transcriptomic responses. MethodsTranscriptomic, methylomic, and metabolomic datasets from whole blood, plasma, and urine of 293 SjD patients and 508 controls were analyzed from the PRECISESADS study. B-cell transcriptomes were included to link systemic metabolic alterations to cell-intrinsic immune programs. Multi-omics factor analysis (MOFA) was used to integrate data and identify discriminant molecular drivers. ResultsMulti-omics integration revealed metabolic rewiring involving the urea cycle, glutamine/arginine metabolism, and NAD depletion linked to interferon signaling. Among the strongest contributors, plasma lysophosphatidic acids (LPA) emerged as key discriminants associated with interferon-driven activation. B-cell transcriptomes showed upregulation of LPA-related genes (CERS6, INPP1, TRIP6), and its receptor LPAR6. Importantly, in this study LPAR6 protein expression was confirmed in B cells for the first time. Secondary findings included alterations in sphingosine-1-phosphate (S1P) metabolism, suggesting a broader lysophospholipid signaling axis. ConclusionsThis study identifies the LPA-LPAR6 signaling axis as a potential metabolic driver of B-cell activation and interferon-associated inflammation in SjD, highlighting a previously unrecognized immunometabolic pathway. These findings highlight LPA-LPAR6 as a candidate target for therapeutic modulation in SjD, while also implicating S1P signaling as a complementary regulatory mechanism.

immunology↗

The SjD Map: An interactive pathway tour into Sjogren's disease signalling mechanisms

ObjectivesSjogrens disease (SjD) remains a major unmet medical challenge, marked by biological complexity, patient heterogeneity, and a lack of curative treatments. To advance the understanding of its pathogenesis and support therapeutic discovery, we developed a comprehensive knowledgebase in the form of a Molecular Interaction Map (MIM). MethodsDifferential expression analysis was performed on peripheral blood samples from SjD patients and healthy controls across three datasets: GSE51092 (190 SjD vs 32 controls), UKPSSR (151 SjD vs 29 controls) and PRECISESADS (304 SjD vs 341 controls). Pathway enrichment analyses provided guidance for MIM construction, which was further refined through literature mining to integrate data-driven results with curated knowledge. ResultsA total of 1,625 differentially expressed genes (DEGs) were identified: 725 from PRECISESADS, 1,162 from GSE51092, and 239 from UKPSSR, with 25 DEGs shared across all three datasets. Among these, nine common DEGs were associated with interferon signalling, reinforcing experimental evidence pointing to its pivotal role in SjD. Enrichment analyses revealed 146 pathways, 43 of which were successfully incorporated into the MIM. The resulting SjD Map freely accessible at https://sjdmap.elixir-luxembourg.org/, comprises 829 molecular entities connected by 598 interactions, with 45% of the information depicted supported by transcriptomic data and 47% derived from literature. The map also includes overlays of experimental data and clinical trial information. ConclusionThis first comprehensive Sjogrens Disease Map, developed through a hybrid data-driven and literature-based approach, offers an integrative view of SjD pathogenesis. It supports visualisation of mechanistic pathways, omics-based data overlays, enables incorporation of user data and drug queries. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=147 SRC="FIGDIR/small/674876v1_ufig1.gif" ALT="Figure 1"> View larger version (60K): org.highwire.dtl.DTLVardef@1bdc517org.highwire.dtl.DTLVardef@1d68077org.highwire.dtl.DTLVardef@18c079forg.highwire.dtl.DTLVardef@487b64_HPS_FORMAT_FIGEXP M_FIG O_FLOATNOGraphical abstractC_FLOATNO C_FIG Key messagesO_LIThis is the first molecular interaction map specific of Sjogrens Disease C_LIO_LIIt enables comprehensive visualisation of affected pathways through integrated transcriptomic and literature-based evidence, following systems biology graphical notation schemes C_LIO_LIThe map may support therapeutic discovery by linking molecular mechanisms to clinical data and drug targets C_LI

systems biology↗

Interferon-α-Driven Stratification of B Cell Reveals Metabolic Reprogramming of Double Negative, Naive and Transitional cell subsets and Refines Molecular Classification in Söjgren's Disease.

Sjogrens disease (SjD) is a chronic autoimmune condition marked by lymphocytic infiltration of exocrine glands and production of autoantibodies such as anti-SSA/Ro, anti-SSB/La, and rheumatoid factor. B lymphocytes play a central role in disease pathogenesis, driving autoantibody production and glandular damage, and contributing to lymphomagenesis. Despite promising therapies, no effective treatment is currently available, partly due to the biological and clinical heterogeneity of the disease. While interferon (IFN) signatures and B cell-related markers are used for patient stratification, their integration remains unexplored. This study analyzed B cell transcriptional and metabolic profiles using bulk transcriptomic, clinical, and flow cytometry data from the PRECISESADS consortium, alongside public single-cell RNA-sequencing datasets. A B cell-specific IFN- signature was established to stratify patients into IFN-positive and IFN-negative groups. Both showed reduced oxidative phosphorylation (OXPHOS) and translation in B cell subsets, suggesting a shared pre-metabolic state. IFN-positive patients, however, displayed additional features, including enhanced glycolysis, amino acid and lipid metabolism, autophagy, and NF-{kappa}B signaling. They also showed an expansion of IFN-activated naive (Naive IFN), Transitional, and double-negative (DN) B cells, particularly DN2 and DN2_CXCR3 subsets, which have been linked in the literature to autoreactivity and lymphoma development. The IFN signature in naive B cells and DN2 correlated with elevated anti-SSA/Ro and anti-SSB/La titers, while only naive B cells showed an association with increased histological focus scores. These findings support the relevance of a B cell-specific IFN signature in stratifying SjD patients and suggest new metabolic and transcriptional targets for disease monitoring and therapeutic development. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=135 SRC="FIGDIR/small/672530v1_ufig1.gif" ALT="Figure 1"> View larger version (30K): org.highwire.dtl.DTLVardef@fd8a4eorg.highwire.dtl.DTLVardef@183241dorg.highwire.dtl.DTLVardef@b7f2d9org.highwire.dtl.DTLVardef@a89349_HPS_FORMAT_FIGEXP M_FIG C_FIG

immunology↗

BiomiX, a User-Friendly Bioinformatic Tool for Automatized Multiomics Data Analysis and Integration

BiomiX addresses the data analysis bottleneck in high-throughput omics technologies, enabling the efficient, integrated analysis of multiomics data obtained from two cohorts. BiomiX incorporates diverse omics data. DESeq2/Limma packages analyze transcriptomics data, while statistical tests determine metabolomics peaks. The metabolomics annotation uses the mass-to-charge ratio in the CEU Mass Mediator database and fragmentation spectra in the TidyMass package while Methylomics analysis is performed using the ChAMP R package. Multiomics Factor Analysis (MOFA) integration and interpretation identifies common sources of variations among omics. BiomiX provides comprehensive outputs, including statistics and report figures, also integrating EnrichR and GSEA for biological process exploration. Subgroup analysis based on user gene panels enhances comparisons. BiomiX implements MOFA automatically, selecting the optimal MOFA model to discriminate the two cohorts being compared while providing interpretation tools for the discriminant MOFA factors. The interpretation relies on innovative bibliography research on Pubmed, which provides the articles most related to the discriminant factor contributors. The interpretation is also supported by clinical data correlation with the discriminant MOFA factors and pathways analyses of the top factor contributors. The integration of single and multi-omics analysis in a standalone tool, together with the implementation of MOFA and its interpretability by literature, constitute a step forward in the multi-omics landscape in line with the FAIR data principles. The wide parameter choice grants a personalized analysis at each level based on the user requirements. BiomiX is a user-friendly R-based tool compatible with various operating systems that aims to democratize multiomics analysis for bioinformatics non-experts. Key pointsO_LIBiomiX is the first user-friendly multiomics tool to perform single omics analysis for transcriptomics, metabolomics and methylomics and their data integration by MOFA in the same platform. C_LIO_LIMOFA algorithm was made accessible to non-bioinformaticians and improved to select the best model automatically, testing the MOFA factors performance in groups separation. C_LIO_LILarge improvement of MOFA factors interpretability by correlation, pathways analysis and innovative bibliography research. C_LIO_LIBiomiX is embedded in a network of other online tools as GSEA, metaboanalyst EnrichR etc, to provide a format compatible with further analyses in these tools. C_LIO_LIInterface and usage are intuitive and compatible with all the main operating systems, and rich parameters are set to grant personalized analysis based on the users needs. C_LI

bioinformatics↗

B-Cell Involvement in Immune Checkpoint Inhibitor-Induced Lichen Planus: A Comparative Analysis with Non-Drug-Related Lichen Planus.

BackgroundImmune checkpoint inhibitors (ICI) have significantly improved cancer prognosis but can lead to immune-related adverse events (irAE), including cutaneous manifestations affecting 30% to 60% of ICI-treated patients. However, the physiopathology of cutaneaous irAE remains unclear. ObjectiveThis study investigated the immune infiltration in tissues affected by cutaneous irAE to elucidate their contribution to the pathogenesis of these toxicities. MethodsSkin biopsies from 6 patients with ICI-induced lichenoid eruptions were compared using imaging mass cytometry to samples from 7 controls with non-drug-related lichen planus. ResultsT cells were the predominant cell type within the inflammatory infiltrate in all samples, but we observed a reduced T-cell infiltration and an increased B-cell frequency in ICI-induced lichen planus compared to non-drug related lichen planus. Among B cells, we observed a significant decrease in IgD-CD27-double-negative B cells and an increase in IgD+CD27-naive B cells. Spatial analysis demonstrated that infiltrating B cells were organized in aggregates close to T cells in ICI-induced lichen planus. LimitationsThis is a retrospective single-center study with a relatively small sample size. ConclusionThis study sheds light on the involvement of B cells in the pathogenesis of ICI-induced lichen planus, suggesting distinct immunological mechanisms from non-drug-related lichen planus. CAPSULE SUMMARYO_LILichenoid manifestations are a common but understudied side effect occurring in patients receiving anti-PD-1 antibodies. C_LIO_LIICI-induced lichen planus displays distinct physiopathology from non-drug-related lichen planus, with a decrease of T-cell infiltration concomitantly to the increase of B cells organized in aggregates. C_LI

immunology↗

IL-21 and IFN-α have both opposite and redundant role on human innate precursors and memory B-cell differentiation.

Immunological memory is essential for effective immune protection upon antigen rechallenge. Memory B cells encompass multiple subsets, heterogeneous in terms of phenotypes, origins and precursors, anatomical localization, and functional responses. B-cell responses are conditioned by micro-environmental signals, including cytokines. Here, we analyzed in vitro the effects of two cytokines implicated in B-cell differentiation, interferon-alpha (IFN-) and interleukin (IL)-21, on the early functional response of four different mature B-cell subsets (IgD- CD27- naive, IgD+ CD27+ unswitched, IgD- CD27+ switched and double-negative B cells). The dual response of naive and memory B cells to IL-21 allowed us to uncover a unique IgD+ CD27- CD10- B-cell population (referred to as NARB+) characterized by the expression of marginal zone B-cell markers CD45RB and CD1c. Similar to memory B cells, NARB+ cells were in a pre-activated state, allowing them to rapidly differentiate into plasmablasts upon innate signals while maintaining their susceptibility to IL-21 activation-induced apoptosis as observed for the naive compartment. Both in-depth phenotypic analysis of circulating B cells, and identification of these cells in spleen, tonsil and gut-associated lymphoid tissues, supported that NARB+ are uncommitted precursors of human marginal zone B cells.

immunology↗

Sleep-related thalamocortical spindles and delta oscillations are reduced during a ketamine-induced psychosis-relevant transition state.

BackgroundIn schizophrenia, sleep spindles are reduced, supporting the hypothesis that the thalamus and glutamate receptors play a crucial etio-pathophysiological role, whose underlying mechanisms remain unknown. We hypothesized that a reduced function of NMDA receptors is involved in the psychosis-related spindle deficit.\n\nMethodsAn electrophysiological multisite cell-to-network exploration was used to investigate, in sleeping rats, the effects of a ketamine-induced psychosis-relevant transition state in the sensorimotor and associative/cognitive thalamocortical (TC) systems.\n\nResultsUnder the control condition, spontaneously-occurring spindles (intra-frequency: 10-16 waves/s) and delta-frequency (1-4Hz) oscillations were recorded in the EEG of the frontoparietal cortex, in thalamic extracellular recordings (n=16), in dual juxtacellularly recorded GABAergic thalamic reticular nucleus (TRN) and glutamatergic TC neurons (n=8), and in intracellularly recorded TC neurons (n=8). The TRN cells rhythmically exhibited robust high-frequency bursts of action potentials (7 to 15 APs at 200-700 Hz). A single administration of low-dose ketamine fleetingly reduced TC spindles and delta oscillations, amplified ongoing gamma-(30-80Hz) and higher-frequency oscillations, and switched the firing pattern of both TC and TRN neurons from a burst mode to a single AP mode. Furthermore, ketamine strengthened the gamma-frequency band TRN-TC connectivity (n=11). The antipsychotic clozapine consistently prevented the ketamine effects on spindles, delta- and gamma-/higher-frequency TC oscillations (n=7).\n\nConclusionThe present findings support the hypothesis that NMDA receptor hypofunction is involved in the psychosis-related reduction in sleep spindles and delta oscillations. The ketamine-induced swift conversion (from burst to single APs) of ongoing TC-TRN activities may have involved both the ascending reticular activating system and the corticothalamic pathway.\n\nLAY ABSTRACTSchizophrenia is a chronic debilitating disease. Sleep disturbances associated with a reduction in spindles are observed as warning signs prior to the first psychotic episode. Every spindle is a short-lasting (~0.5 s) set of bioelectric sinusoidal waves at the frequency of 10-16 Hz generated within the thalamus. Sleep spindles, easily identifiable in a scalp electroencephalogram, occur hundreds of times during sleep and are implicated in cognition like memory processes. For this reason, spindles are seen as an electro-biomarker of the quality of sleep and cognitive performance. In patients at high risk of psychotic transition, the density (number/time unit) of spindles is reduced. The underlying mechanisms of this change are unknown. Glutamate-mediated neurotransmission in the thalamus plays a key role in the generation of spindles and the etiology of schizophrenia. Therefore, we tested the hypothesis that a reduced function of glutamate receptors at the thalamic level is involved in the psychosis-related reduction in spindles. Using cell-to-network neurophysiological methods in sleeping rats, we demonstrate that systemic administration of the NMDA glutamate receptor antagonist, ketamine, significantly decreases spindle density. This effect is consistently prevented by the widely used antipsychotic drug, clozapine. These original findings support the hypothesis of the involvement of a reduced function of NMDA glutamate receptors in the sleep spindle deficit observed in psychosis-related disorders. The present findings lay the foundation for the development of innovative therapies aimed at preventing psychotic, bipolar, and depressive disorders.\n\nHIGHLIGHTSO_LILow-dose ketamine has a fast onset arousal promoting effect.\nC_LIO_LIKetamine fleetingly reduces, in the first-/higher-order thalamocortical systems, sleep spindles and slow-waves, and amplifies gamma- and higher-frequency oscillations.\nC_LIO_LIKetamine switches the firing pattern from a burst mode to a single action potential mode in both the glutamatergic thalamocortical neurons and the GABAergic thalamic reticular nucleus neurons.\nC_LIO_LIKetamine strengthens the gamma-frequency band connectivity between thalamocortical and thalamic reticular nucleus neurons.\nC_LIO_LIThe reference antipsychotic clozapine consistently prevents the ketamine effects.\nC_LI

neuroscience↗