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Gohl, P.

Publications and source records attributed to Gohl, P..

4 recordsLinked to original sources

ModCRE-NN: Interpretable Deep Learning Harnesses Structural and Evolutionary Synergy to Predict Transcription Factor Binding Specificity

We present ModCRE-NN, a machine-learning framework and server for predicting transcription-factor (TF) DNA-binding motifs through the integration of structural and evolutionary information. The method combines structure-derived Position Weight Matrices (PWMs) together with PWMs of homologous spanning multiple evolutionary sequence-identity intervals, which are integrated into a unified 20-channel tensor representation. Benchmark datasets were constructed on experimental databases of TF motifs, showing DNA binding specificity, while redundancy reduction and strict train/test partitioning minimized homology leakage. Prediction quality was evaluated on an independent separated set of TFs using the similarity analysis of profiles. Three complementary architectures were implemented and evaluated: an interpretable regression-based model, a convolutional neural network (CNN), and a Transformer-based architecture using self-attention mechanisms. The regression model achieved strong performance in high-homology regimes dominated by closely related PWMs, whereas CNN and Transformer architectures showed superior robustness under low evolutionary similarity and increased structural uncertainty. Importantly, AI-generated motifs consistently improved the similarity-scores while reducing prediction variance relative to the original structural and evolutionary input motifs, indicating that the models effectively denoise heterogeneous motif assemblies and reconstruct stable consensus DNA-binding representations rather than simply transferring PWMs from the nearest homolog. The CNN model exhibited the most balanced attribution profile, suggesting enhanced ability to combine weak structural and evolutionary signals into coherent motif representations. Additionally, we implemented a prediction-reliability framework combining Random Forest regression, exponential interpolation, and hybrid residual-corrected modeling to estimate the quality and uncertainty of the PWMs as functions of evolutionary similarity, motif-cluster consistency, and TF-family context. Overall, our results demonstrate that integrating structural information with deep learning provides a robust framework for large-scale TF-binding specificity prediction under conditions of substantial evolutionary divergence and motif uncertainty.

bioinformatics↗

ModCRElib: A standalone package to model cis-regulatory elements.

SummaryThe ModCRElib package provides various tools for the analysis and modelling of transcription factor(TF)-DNA and regulatory complex inter-protein interactions. It takes structural information on these interactions to predict TF binding motifs, generate binding profiles along DNA sequences that score the binding affinity, predict TF binding sites and model the structure of higher order regulatory complexes. It is capable of working with a variety of input data formats and sources. The user may follow the analysis pipeline as outlined in the documentation or the user can make use of any of the multiple functionalities in an isolated manner. The package takes the service offered by the ModCRE server and enables users to apply its tools in an unrestricted and customizable manner. In this paper we provide 5 example uses of ModCRElib. This includes (i) TF binding affinity prediction, (ii) TF binding aggregation, (iii) characterization of specificity in TF binding sites along target DNA sequences,(iv) modelling TF bound to predicted binding sites, and (v) the generation of statistical potential derived scoring profiles of TF interacting with DNA. Availabilityhttps://github.com/structuralbioinformatics/ModCRElib Contactbaldo.oliva@upf.edu Supplementary informationAvailable at https://github.com/structuralbioinformatics/ModCRElib. doi:10.5281/zenodo.17484081

bioinformatics↗

Network-Based Analysis of Human Astrocytes Links Aging to Neurodegenerative and Cardiovascular Diseases

Astrocytes are central to brain homeostasis, supporting neuronal metabolism, synaptic activity, and the blood-brain barrier. With aging, these glial cells undergo molecular and functional changes that weaken support functions and promote neuroinflammation, contributing to neurodegeneration. Yet the systems-level mechanisms of astrocytic aging remain poorly defined in human models. Because aging also heightens risk for cardiovascular disease, cognitive impairment, type 2 diabetes, and systemic inflammation, clarifying shared astrocytic pathways is critical for understanding brain-body crosstalk. Using an in vitro human astrocyte model exposed to sublethal oxidative stress (10 {micro}M H2O2), we profiled transcriptomic changes and identified differentially expressed genes across antioxidant defences, proteostasis, transcriptional regulation, vesicular trafficking, and inflammatory signalling. We then performed seven network-prioritization analyses on a curated human protein-protein interactome: one seeded with the astrocyte H2O2-responsive genes and six with phenotype-associated gene sets (Alzheimers disease, cardiovascular disease, cognitive impairment, type 2 diabetes, oxidative stress, and inflammation). Intersecting the top 5% scoring genes from each run yielded a 127-gene core shared across all seven, enriched for proteostasis, DNA repair, mitochondrial regulation, and telomere and nuclear envelope maintenance. Structure-guided analyses highlighted vulnerable interfaces, including lamin A/C-lamin B1, -actinin-filamins, 14-3-3 dimers, and aminoacyl-tRNA synthetase assemblies, where pathogenic variants are predicted to destabilize or aberrantly stabilize protein interactions. Structure-based interface predictions also highlight potential interactions between APP-VCP/p97 and p53-14-3-3{zeta} that link proteostasis and stress signalling. Together, these findings define a conserved astrocytic vulnerability network that may couple neurodegeneration with cardiovascular disease and nominate structurally testable targets for biomarkers and interventions.

bioinformatics↗

Multi-site Performance Evaluation of the cobas 5800 System and Comparison to the cobas 6800/8800 Systems for Quantitative Measurement of HBV, HCV, and HIV-1 Viral Load.

BackgroundThe cobas(R) 5800 System ("cobas 5800") is a new low to mid-throughput PCR-based nucleic acid testing system which performs both qualitative and quantitative testing, including viral load (VL) determination. cobas 5800 shares numerous design elements and technical characteristics with the existing cobas 6800/8800 Systems. Study DesignWe compared HBV, HCV, and HIV-1 VL results from cobas 5800 in three different laboratories to those from the same specimens tested on a cobas 6800 system. We also assessed cobas 5800 assay reproducibility by repetitive testing of specimens with VL close to values used as thresholds for patient management or classification. ResultsThe correlation between VL measurements generated using cobas 5800 vs 6800 was extremely high, with r2 correlation coefficients between 0.990 and 0.999 for the three targets at the different sites. The slope of the Deming regression line ranged from 0.994 (HBV, site 3) to 1.025 (HIV-1, site 1). The standard deviation values ranged from 0.04 to 0.19 log10 IU/mL for HBV, 0.05 to 0.31 log10 IU/mL for HCV, and 0.05 to 0.31 log10 copies/mL for HIV-1. In general, variability was higher at lower VL. Between 98.6% and 100% of results fell within the allowable total difference zone that defines expected variability on the existing 6800/8800 system. ConclusionsThis multi-site comparison study demonstrates equivalent performance of the new cobas 5800 system compared to cobas 6800. This establishes cobas 5800 as a new option for low to mid-throughout laboratories seeking to optimize efficiency of their viral molecular testing.

microbiology↗