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Bergmann, S.

Publications and source records attributed to Bergmann, S..

At least 19 recordsLinked to original sources

Benchmarking attention-based methods for vision transformers' interpretability in retinal fundus imaging

Deep learning models based on Vision Transformers (ViTs) have shown strong performance in retinal fundus imaging, but their interpretability remains poorly understood. In particular, attention-based attribution methods are widely used to explain ViT predictions, despite limited evaluation of their faithfulness and biological relevance in medical imaging. Here, we systematically benchmark four attention-based interpretability methods for RETFound, a retinal ViT-based foundation model, that we previously fine-tuned to predict 17 retinal vascular phenotypes from UK Biobank fundus images1. We compare raw attention, attention rollout, gradient-weighted attention rollout, and Chefers hybrid relevance-based method using both qualitative visualisation and quantitative evaluation frameworks. To assess attribution faithfulness, we perform perturbation-based deletion and insertion experiments, quantifying changes in model predictions as highly attended image regions are progressively removed or restored. To evaluate biological specificity, we run structure-aware analyses combining attribution maps with vessel segmentation and artery-vein labels through the Relative ratio of Attention Intensity (RAI) metric. Across models, attribution maps differed substantially depending on the selected interpretability method, highlighting the need for rigorous quantitative evaluation. Among the evaluated approaches, gradient-weighted attention rollout consistently achieved the strongest perturbation performance and produced attribution maps most closely aligned with the anatomical definition of the predicted retinal traits. Furthermore, vessel-type specific models systematically concentrate attention on the corresponding vascular structures despite being trained using only a single scalar value per image as supervision. These findings demonstrate that attention-based attribution methods capture biologically meaningful vascular representations, while also revealing method-dependent variability in attribution behaviour. This work provides a quantitative framework for evaluating interpretability methods in medical imaging with annotated segmentation and contributes toward more transparent and biologically grounded medical AI systems.

bioinformatics↗

Multi-omic analysis reveals the genetic architecture of water-deficit stress in Phaseolus vulgaris

Common bean (Phaseolus vulgaris L.) is one of the most important grain legumes for direct human consumption. Currently, 60% of its production is estimated to be at risk due to drought. However, the genetic basis of common beans drought resistance is poorly understood. To this end, we assessed the genetic architecture of drought-responsive changes in a whole genome-sequenced population of 218 common bean accessions. Using multi-omics-based trait evaluation, including lipidomics, photosynthetic and agronomic traits, followed by multi-omics genome-wide association studies (moGWAS), yielded in the detection of a myriad of moQTL for photosynthesis and yield, as well as the levels of various lipids. QTL associated with glycolipids, which are integral to photosynthesis, since they constitute the major membrane components of chloroplasts, were identified. In addition, we molecularly validated several lipid-related candidate genes via P. vulgaris hairy root transformation as well as transient expression in tobacco. In particular, a lipoxygenase and an allene oxide synthase were identified as explaining the variation in triacylglycerol by oxylipin production. These data provide a blueprint for multi-omics-assisted improvement of crop water stress resilience.

plant biology↗

Discovery of a new fibronectin-binding surface protein of Streptococcus canis with serum opacification activity through Transposon Directed Insertion-Site Sequencing

Infective endocarditis is a rare but severe disease in humans and dogs which can be caused by Streptococcus canis. The bacterial factors that mediate endothelial adherence remain poorly defined. To understand how S. canis can adhere to and invade the endocardium, we combined a high-throughput approach called transposon directed insertion-site sequencing (TraDIS) with a physiologically relevant endothelial infection model that incorporates venous-range shear stress to identify S. canis genes required for host cell interaction. A saturated transposon library of clinical strain IMT49926 was screened in a microfluidic infection assay, enabling genome-wide selection of mutants impaired in endothelial adhesion. Comparative analysis of input and non-adherent output pools revealed several candidate genes, including a fibronectin-binding LPXTG-anchored surface protein with high homology to streptococcal serum opacity factors (SOFs). Our findings identified ScSOF as a multifunctional surface protein that plays an important role in the infection potential of S. canis. It facilitates adhesion to endothelial cells, prevents endothelial wound closure, contributes to the streptococcal surface architecture, binds fibronectin, opacifies serum, and inhibits {beta}-haemolytic activity. ScSOF represents a strong candidate for future studies into pathogenesis, immune evasion, and (potentially) vaccine or therapeutic targeting in S. canis infections. Authors summaryStreptococcus canis is a bacterium commonly found in healthy dogs and cats, but it can sometimes cause serious infections in animals and humans, including infective endocarditis, a dangerous infection of the heart lining. To cause this disease, the bacteria must first attach to and invade the cells that line blood vessels. However, very little is known about how S. canis can do this. In this study, we used a genetic screening method that includes all the genes from S. canis to identify which bacterial genes are needed for attachment to human endothelial cells under conditions that mimic real blood flow. We discovered a previously uncharacterized surface protein, which we named ScSOF, that plays several important roles during infection. ScSOF helps the bacteria bind to fibronectin, a major host tissue protein, alters the bacterial surface structure, and causes serum opacification, a known marker of virulence in related streptococci. When ScSOF was removed, the bacteria were much less able to attach to endothelial cells, cause cell damage, or interfere with the healing of endothelial wounds. Our findings show that ScSOF is a key factor that enables S. canis to interact with host tissues and may contribute to heart valve infections.

microbiology↗

Sex-specific disease association and genetic architecture of retinal vascular traits

Sex as a biological variable (SABV) remains underemphasized in biomedical research, despite its well-established impact on disease prevalence, progression, and genetic architecture. Here, we investigated sex differences in retinal vascular phenotypes, which are emerging as non-invasive biomarkers for ocular, cardiovascular, and neurodegenerative diseases. We used both interaction and sex-stratified analyses in disease association and genome-wide association studies (GWAS), including the X chromosome. Our analyses revealed sex-specific differences in associations between retinal traits, cardiometabolic risk factors, and disease outcomes. Several phenotypes showed prognostic value for mortality and cardiovascular endpoints, predominantly in one sex, illustrating the limitations of sex-agnostic analyses. Genetic analyses revealed differences in genetic architectures, with females exhibiting higher heritability and a greater number of associated loci, as well as sex-specific trait-gene associations. Notably, we report the first genetic association on the X chromosome for retinal vascular phenotypes. These findings suggest sex-differential genetic and environmental contributions to microvascular morphology, possibly reflecting divergent biological pathways and risk profiles. Our study underscores the necessity of integrating SABV and sex-aware approaches in genetic and prognostic research to advance precision medicine and improve tailored risk stratification.

genetics↗

Associations between common genetic variants and income provide insights about the socioeconomic health gradient

We conducted a genome-wide association study (GWAS) on income among individuals of European descent and leveraged the results to investigate the socio-economic health gradient (N=668,288). We found 162 genomic loci associated with a common genetic factor underlying various income measures, all with small effect sizes. Our GWAS-derived polygenic index captures 1 - 4% of income variance, with only one-fourth attributed to direct genetic effects. A phenome-wide association study using this polygenic index showed reduced risks for a broad spectrum of diseases, including hypertension, obesity, type 2 diabetes, coronary atherosclerosis, depression, asthma, and back pain. The income factor showed a substantial genetic correlation (0.92, s.e. = .006) with educational attainment (EA). Accounting for EAs genetic overlap with income revealed that the remaining genetic signal for higher income related to better mental health but reduced physical health benefits and increased participation in risky behaviours such as drinking and smoking.

genetics↗

Disentangling genetic effects on transcriptional and post-transcriptional gene regulation through integrating exon and intron expression QTLs

Expression quantitative trait loci (eQTL) studies typically consider exon expression of genes and discard intronic RNA sequencing reads despite their information on RNA metabolism. Here, we quantified genetic effects on exon and intron levels of genes and their ratio in lymphoblastoid cell lines, revealing thousands of cis-QTLs of each type. Genetic effects were often shared between cis-QTL types, but 6084 (41%) were not detectable at exon levels. We show that exon levels preferentially capture genetic effects on transcriptional regulation, while exon-intron-ratios better detect those on co- and post-transcriptional processes. Considering all cis-QTL types substantially increased the number of colocalizing GWAS variants (by 61%). It further allowed dissecting the potential gene regulatory processes underlying GWAS associations, suggesting comparable contributions by transcriptional (48%) and co- and post-transcriptional regulation (42%) to complex traits. Overall, integrating intronic RNA sequencing reads in eQTL studies expands our understanding of genetic effects on gene regulatory processes.

genomics↗

Origin and segregation of the human germline

Human germline-soma segregation occurs during weeks 2-3 in gastrulating embryos. While direct studies are hindered, here we investigate the dynamics of human primordial germ cell (PGCs) specification using in vitro models with temporally resolved single-cell transcriptomics and in-depth characterisation to in vivo datasets from human and non-human primates, including a 3D marmoset reference atlas. We elucidate the molecular signature for the transient gain of competence for germ cell fate during peri-implantation epiblast development. Further, we show that both the PGCs and amnion arise from transcriptionally similar TFAP2A positive progenitors at the posterior end of the embryo. Notably, genetic loss of function experiments show that TFAP2A is crucial for initiating the PGC fate without detectably affecting the amnion, and its subsequently replaced by TFAP2C as an essential component of the genetic network for PGC fate. Accordingly, amniotic cells continue to emerge from the progenitors in the posterior epiblast, but importantly, this is also a source of nascent PGCs.

developmental biology↗

Plakoglobin is a mechanoresponsive regulator of naïve pluripotency

Biomechanical cues are instrumental in guiding embryonic development and cell differentiation. Understanding how these physical stimuli translate into transcriptional programs could provide insight into mechanisms underlying mammalian pre-implantation development. Here, we explore this by exerting microenvironmental control over mouse embryonic stem cells (ESCs). Microfluidic encapsulation of ESCs in agarose microgels stabilized the naive pluripotency network and specifically induced expression of Plakoglobin (Jup), a vertebrate homologue of {beta}-catenin. Indeed, overexpression of Plakoglobin was sufficient to fully re-establish the naive pluripotency gene regulatory network under metastable pluripotency conditions, as confirmed by single-cell transcriptome profiling. Finally, we found that in the epiblast, Plakoglobin was exclusively expressed at the blastocyst stage in human and mouse embryos - further strengthening the link between Plakoglobin and naive pluripotency in vivo. Our work reveals Plakoglobin as a mechanosensitive regulator of naive pluripotency and provides a paradigm to interrogate the effects of volumetric confinement on cell-fate transitions. HighlightsO_LI3D agarose spheres stabilize the naive pluripotency network in mouse ESCs. C_LIO_LIVolumetric confinement induces expression of Plakoglobin, a vertebrate homologue of {beta}-catenin. C_LIO_LIPlakoglobin expression in the epiblast is specific to pre-implantation human and mouse embryos. C_LIO_LIPlakoglobin overexpression maintains naive pluripotency independently of {beta}-catenin. C_LI

developmental biology↗

Untargeted metabolome- and transcriptome-wide association study identifies causal genes modulating metabolite concentrations in urine

In this study we investigate the results of a metabolome- and transcriptome-wide association study to identify genes influencing the human metabolome. We used RNAseq data from lymphoblastoid cell lines (LCLs) derived from 555 Caucasian individuals to characterize their transcriptome. As for the metabolome we took an untargeted approach using binned features from 1H nuclear magnetic resonance spectroscopy (NMR) of urine samples from the same subjects allowing for data-driven discovery of associated compounds (rather than working with a limited set of quantified metabolites). Using pairwise linear regression we identified 21 study-wide significant associations between metabolome features and gene expression levels. We observed the most significant association between the gene ALMS1 and two adjacent metabolome features at 2.0325 and 2.0375 ppm. By using our previously developed metabomatching methodology, we found N-Acetylaspartate (NAA) as the potential underlying metabolite whose urine concentration is correlated with ALMS1 expression. Indeed, a number of metabolome- and genome-wide association studies (mGWAS) had already suggested the locus of this gene to be involved in regulation of N-acetylated compounds, yet were not able to identify unambiguously the exact metabolite, nor to disambiguate between ALMS1 and NAT8, another gene found in the same locus as the mediator gene. The second highest significant association was observed between HPS1 and two metabolome features at 2.8575 and 2.8725 ppm. Metabomatching of the association profile of HPS1 with all metabolite features pointed at trimethylamine (TMA) as the most likely underlying metabolite. mGWAS had previously implicated a locus containing HPS1 to be associated with TMA concentrations in urine but could not disambiguate this association signal from PYROXD2, a gene in the same locus. We used Mendelian randomization to show for both ALMS1 and HPS1 that their expression is causally linked to the respective metabolite concentrations. Our study provides evidence that the integration of metabolomics with gene expression data can support mQTL analysis, helping to identify the most likely gene involved in the modulation of the metabolite concentration.

genomics↗

BTP-7, a novel peptide for therapeutic targeting of malignant brain tumors

BackgroundTargeted therapies for malignant brain cancer that are currently available have little clinical activity, highlighting an urgent need for the development of novel precision medicines. Brevican (Bcan), a central nervous system (CNS)-specific extracellular matrix protein is upregulated in glioma cells. A brevican isoform lacking glycosylation, dg-Bcan, is a unique glioma marker and thus represents a valuable target for anti-cancer therapy. In this study, we aimed to find a versatile dg-Bcan specific ligand to facilitate glioma targeting. MethodsWe screened a D-peptide library to identify dg-Bcan-Targeting Peptide (BTP) candidates, which were characterized extensively through binding kinetic analyses, cell uptake tests and animal studies. ResultsThe top candidate, BTP-7 binds dg-Bcan with high affinity and specificity, is preferentially internalized by Bcan-expressing glioma cells and can cross the blood-brain barrier in vitro and in mice. Functionalization of camptothecin with BTP-7 led to increased drug delivery to intracranial glioblastoma and cytotoxicity in tumor tissues, as well as prolonged survival in tumor-bearing mice. Conclusiondg-Bcan is an attractive therapeutic target for high-grade gliomas, and BTP-7 represents a promising lead candidate for further development into novel targeted therapeutics. Key pointsO_LIBTP-7 is a high affinity peptide ligand for the dg-Bcan protein and Bcan-expressing cells. C_LIO_LIBTP-7 targets human intracranial GBM xenografts in mice. C_LIO_LIFunctionalization of a toxic anti-cancer drug with BTP-7 enables targeted delivery of the therapeutic to intracranial GBM in mice C_LI Importance of the StudyTargeted therapies for malignant brain cancer that are currently available have little clinical activity, highlighting an urgent need for the development of novel precision medicines that can selectively recognize and kill high-grade glioma tissues. A protein called dg-Bcan is an ideal target because it is present only in the extracellular matrix of high-grade glioma cells and is absent from normal brain tissues. Here, we describe the discovery of a novel dg-Bcan-Targeting Peptide, called BTP-7 that can bind specifically to high-grade glioma cells/tissues, and thus serve as a promising drug delivery vehicle.

bioengineering↗

Estimating RNA dynamics using one time point for one sample in a single-pulse metabolic experiment

Over the past decade, experimental procedures such as metabolic labeling for determining RNA turnover rates at the transcriptome-wide scale have been widely adopted and are now turning to single cell measurements. Several computational methods to estimate RNA processing and degradation rates from such experiments have been suggested, but they all require several RNA sequencing samples. Here we present a method that can estimate RNA synthesis, processing and degradation rates from a single sample. Our method is computationally efficient and outputs rates that correlate well with previously published data sets. Using it on a single sample, we were able to reproduce the observation that dynamic biological processes tend to involve genes with higher metabolic rates, while stable processes involve genes with lower rates. This supports the hypothesis that cells control not only the mRNA steady-state abundance, but also its responsiveness, i.e., how fast steady-state is reached. In addition to saving experimental work and computational time, having a sample-based rate estimation has several advantages. It does not require an error-prone normalization across samples and enables the use of replicates to estimate uncertainty and perform quality control. Finally the method and theoretical results described here are general enough to be useful in other contexts such as nucleotide conversion methods and single cell metabolic labeling experiments.

bioinformatics↗

LincRNA sequences are biased to counteract their translation

Long intergenic non-coding RNAs (lincRNAs) represent a large fraction of transcribed loci in eukaryotic genomes. Although classified as non-coding, most lincRNAs contain open reading frames (ORFs), and it remains unclear why cytoplasmic lincRNAs are not or very inefficiently translated. Here, we analysed signatures of repressed translation in lincRNA sequences from six eukaryotes. In species under stronger selection, i.e. fission yeast and worm, we detected significantly shorter ORFs than in intronic and non-transcribed control regions, a suboptimal sequence context around start codons for translation initiation, and trinucleotides ("codons") corresponding to less abundant tRNAs than codons in control regions, potentially impeding translation elongation. We verified that varying tRNA expression levels affect ribosome-binding to lincRNAs by analyzing data from five human cell lines. Notably, for three cell lines, codons in abundant cytoplasmic lincRNAs corresponded to lower expressed tRNAs than control codons, substantiating cell type-specific repression of lincRNA translation in human. Finally, comparing non-coding with peptide-encoding ORFs suggested that codon usage at the start of ORFs to be of particular relevance for ribosome-binding. The identified sequence signatures may assist distinguishing peptide- from real non-coding lincRNAs in a cell.

genomics↗

Shear forces drive precise patterning of hair cells in the mammalian inner ear

Precise cellular organizations are required for the function of many organs and tissues. It is often unclear, however, how such precise patterns emerge during development. The mammalian hearing organ, the organ of Corti, consists of a remarkably organized pattern of four rows of hair cells (HCs) interspersed by non-sensory supporting cells (SCs). This checkerboard-like pattern of HCs and SCs emerges from a disordered epithelium over several days, yet the transition to an ordered cellular pattern is not well understood. Using a combination of quantitative morphological analysis and time-lapse imaging of mouse cochlear explants, we show here that patterning of the organ of Corti involves dynamic reorganizations that include lateral shear motion, cell intercalations, and delaminations. A mathematical model, where tissue morphology is described in terms of the mechanical forces that act on cells and cellular junctions, suggests that global shear on HCs and local repulsion between HCs are sufficient to drive the tissue into the final checkerboard-like pattern. Our findings suggest that precise patterns can emerge during development from reorganization processes, driven by a combination of global and local forces in a process analogous to shear-induced crystallization.

developmental biology↗

DreamDMI: a tool for Disease Module Identification in molecular networks

SummaryWe define a disease module as a partition of a molecular network whose components are jointly associated with one or several diseases or risk factors thereof. Identification of such modules, across different types of networks, has great potential for elucidating disease mechanisms and establishing new powerful bio-markers. To this end, we launched the \"Disease Module Identification (DMI) DREAM Challenge\", a community effort to build and evaluate unsupervised molecular network modularisation algorithms (Choobdar et al., 2018). Here we present MONET, a toolbox providing easy and unified access to the three top methods from the DMI DREAM Challenge for the bioinformatics community.\n\nAvailability and ImplementationMONET is a command line tool for Linux, based on Docker and Singularity containers; the core algorithms were written in R, Python, Ada and C++. It is freely available for download at https://github.com/BergmannLab/MONET.git\n\nContactmattia.tomasoni@unil.ch (MT); sven.bergmann@unil.ch (SB)

bioinformatics↗

Automated analysis of large-scale NMR data generates metabolomic signatures and links them to candidate metabolites

Identification of metabolites in large-scale 1H NMR data from human biofluids remains challenging due to the complexity of the spectra and their sensitivity to pH and ionic concentrations. In this work, we test the capacity of three analysis tools to extract metabolite signatures from 968 NMR profiles of human urine samples. Specifically, we studied sets of co-varying features derived from Principal Component Analysis (PCA), the Iterative Signature Algorithm (ISA) and Averaged Correlation Profiles (ACP), a new method we devised inspired by the STOCSY approach. We used our previously developed metabomatching method to match the sets generated by these algorithms to NMR spectra of individual metabolites available in public databases. Based on the number and quality of the matches we concluded that both ISA and ACP can robustly identify about a dozen metabolites, half of which were shared, while PCA did not produce any signatures with robust matches.

bioinformatics↗

PhenoMeNal: Processing and analysis of Metabolomics data in the Cloud

BackgroundMetabolomics is the comprehensive study of a multitude of small molecules to gain insight into an organisms metabolism. The research field is dynamic and expanding with applications across biomedical, biotechnological and many other applied biological domains. Its computationally-intensive nature has driven requirements for open data formats, data repositories and data analysis tools. However, the rapid progress has resulted in a mosaic of independent - and sometimes incompatible - analysis methods that are difficult to connect into a useful and complete data analysis solution.\n\nFindingsThe PhenoMeNal (Phenome and Metabolome aNalysis) e-infrastructure provides a complete, workflow-oriented, interoperable metabolomics data analysis solution for a modern infrastructure-as-a-service (IaaS) cloud platform. PhenoMeNal seamlessly integrates a wide array of existing open source tools which are tested and packaged as Docker containers through the projects continuous integration process and deployed based on a kubernetes orchestration framework. It also provides a number of standardized, automated and published analysis workflows in the user interfaces Galaxy, Jupyter, Luigi and Pachyderm.\n\nConclusionsPhenoMeNal constitutes a keystone solution in cloud infrastructures available for metabolomics. It provides scientists with a ready-to-use, workflow-driven, reproducible and shareable data analysis platform harmonizing the software installation and configuration through user-friendly web interfaces. The deployed cloud environments can be dynamically scaled to enable large-scale analyses which are interfaced through standard data formats, versioned, and have been tested for reproducibility and interoperability. The flexible implementation of PhenoMeNal allows easy adaptation of the infrastructure to other application areas and omics research domains.

bioinformatics↗

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

Body fat distribution is a heritable risk factor for a range of adverse health consequences, including hyperlipidemia and type 2 diabetes. To identify protein-coding variants associated with body fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, we analyzed 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries for discovery and 132,177 independent European-ancestry individuals for validation. We identified 15 common (minor allele frequency, MAF[&ge;]5%) and 9 low frequency or rare (MAF<5%) coding variants that have not been reported previously. Pathway/gene set enrichment analyses of all associated variants highlight lipid particle, adiponectin level, abnormal white adipose tissue physiology, and bone development and morphology as processes affecting fat distribution and body shape. Furthermore, the cross-trait associations and the analyses of variant and gene function highlight a strong connection to lipids, cardiovascular traits, and type 2 diabetes. In functional follow-up analyses, specifically in Drosophila RNAi-knockdown crosses, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). By examining variants often poorly tagged or entirely missed by genome-wide association studies, we implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.

genetics↗

Open Community Challenge Reveals Molecular Network Modules with Key Roles in Diseases

Identification of modules in molecular networks is at the core of many current analysis methods in biomedical research. However, how well different approaches identify disease-relevant modules in different types of gene and protein networks remains poorly understood. We launched the "Disease Module Identification DREAM Challenge", an open competition to comprehensively assess module identification methods across diverse protein-protein interaction, signaling, gene co-expression, homology, and cancer-gene networks. Predicted network modules were tested for association with complex traits and diseases using a unique collection of 180 genome-wide association studies (GWAS). Our critical assessment of 75 contributed module identification methods reveals novel top-performing algorithms, which recover complementary trait-associated modules. We find that most of these modules correspond to core disease-relevant pathways, which often comprise therapeutic targets and correctly prioritize candidate disease genes. This community challenge establishes benchmarks, tools and guidelines for molecular network analysis to study human disease biology (https://synapse.org/modulechallenge).

bioinformatics↗