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Plewczynski, D.

Publications and source records attributed to Plewczynski, D..

At least 19 recordsLinked to original sources

BFWalk: backtrack-free network propagation with in-degree normalization

In network medicine, the protein-protein interaction network, or interactome, is an essential resource for identifying candidate proteins underlying diseases and other phenotypic traits. Indeed, it can be leveraged via the guilt-by-association paradigm, which asserts that interacting proteins are likely to participate in the same molecular processes. Network propagation that combines the topology of the interactome with prior knowledge about disease genes is a promising strategy to identify new candidate genes contributing to diseases. However, existing network propagation algorithms are often biased toward highly connected proteins, called "hubs". We present BFWalk, a novel network propagation algorithm designed to avoid inflated scores for hubs. We tested BFWalk across four human phenotypes: multiple morphological abnormalities of the sperm flagella, dyschromatopsia, hypertrophic cardiomyopathy, and chronic kidney disease. For each phenotype, we assessed whether BFWalk could recover known phenotype-associated genes and whether new candidate genes were enriched in relevant tissues. Depending on the phenotype, BFWalk outperformed or matched the state-of-the-art network propagation methods. Furthermore, the results confirmed that BFWalk is free of bias toward high-degree nodes. Therefore, BFWalk is a powerful method for identifying new genes across diverse phenotypes and constitutes a strong alternative to existing network propagation algorithms. Availability: BFWalk is implemented in Python and C. The code is available under the GNU GPL (v3.0) on: https://github.com/jedrzejkubica/BFWalk

bioinformatics↗

β-catenin-independent regulation by TCF7L2 underlies isoform redundancy during embryonic thalamic development

Alternative promoter usage generates multiple transcription factor isoforms during brain development, yet their functional significance remains poorly defined. One such example is TCF7L2, a transcription factor critical for the development of the thalamus and recurrently affected by de novo mutations in autism spectrum disorder. TCF7L2 exists in two isoforms driven from different promoters: the long isoform (L-TCF7L2) with the {beta}-catenin-binding domain, and the shorter isoform (S-TCF7L2), lacking this domain and classically considered a dominant-negative regulator of the L isoform. We investigated the role of TCF7L2 isoforms in thalamic development using total and isoform-specific knockout strategies. Integrated phenotypic and transcriptomic analyses revealed functional redundancy of TCF7L2 isoforms during embryogenesis. {beta}-catenin subcellular localization and chromatin occupancy uncovered a developmental switch in TCF7L2 activity, from a {beta}-catenin-independent and isoform-redundant mode in the embryonic thalamus to a {beta}-catenin-dependent program postnatally. More broadly, these findings point to distinct embryonic and postnatal regulatory strategies, with alternative promoter usage potentially supporting robust availability of regulatory proteins during brain development.

neuroscience↗

ChromMovie: A Molecular Dynamics Approach for Simultaneous Modeling of Chromatin Conformation Changes from Multiple Single-Cell Hi-C Maps

The development of 3C-based techniques for analyzing three-dimensional chromatin structure dynamics has driven significant interest in computational methods for 3D chromatin reconstruction. In particular, models based on Hi-C and its single-cell variants, such as scHi-C, have gained widespread popularity. Current approaches for reconstructing the chromatin structure from scHi-C data typically operate by processing one scHi-C map at a time, generating a corresponding 3D chromatin structure as output. Here, we introduce an alternative approach to the whole genome 3D chromatin structure reconstruction that builds upon existing methods while incorporating the broader context of dynamic cellular processes, such as the cell cycle or cell maturation. Our approach integrates scHi-C contact data with single-cell trajectory information and is based on applying simultaneous modeling of a number of cells ordered along the progression of a given cellular process. The approach is able to successfully recreate known nuclear structures while simultaneously achieving smooth, continuous changes in chromatin structure throughout the cell cycle trajectory. Although both Hi-C-based chromatin reconstruction and cellular trajectory inference are well-developed fields, little effort has been made to bridge the gap between them. To address this, we present ChromMovie, a comprehensive molecular dynamics framework for modeling 3D chromatin structure changes in the context of cellular trajectories. To our knowledge, no existing method effectively leverages both the variability of single-cell Hi-C data and explicit information from estimated cellular trajectories, such as cell cycle progression, to improve chromatin structure reconstruction.

bioinformatics↗

Chromatin as a Coevolutionary Graph: Modeling the Interplay of Replication with Chromatin Dynamics

Modeling DNA replication requires capturing the interplay of multiple biophysical processes and their effects on chromatin structure. We present RepliSage, a multi-scale framework that integrates three key factors: replication timing, loop extrusion, and compartmentalization. Replication forks act as moving barriers that reorganize chromatin during S phase by interfering with loop extrusion. Our approach combines: (1) fork propagation simulated from single-cell replication timing data, (2) Monte Carlo modeling of loop extrusion and epigenetic state transitions, and (3) 3D reconstruction using OpenMM, where loops are modeled as harmonic bonds and epigenetic states drive compartmental interactions. Chromatin is represented as a graph where both the links and the node states change over time. By adjusting model parameters across cell cycle phases, we reproduce known structural transitions and explore how replication stress alters genome organization. This is the first framework to dynamically integrate all three processes for simulating chromatin architecture during the cell cycle.

bioinformatics↗

Unveiling epigenetic regulatory elements associated with breast cancer development

Breast cancer is the most common cancer in women and the 2nd most common cancer worldwide, yearly impacting over 2 million females and causing 650 thousand deaths. It has been widely studied, but its epigenetic variation is not entirely unveiled. We aimed to identify epigenetic mechanisms impacting the expression of breast cancer related genes to detect new potential biomarkers and therapeutic targets. We considered The Cancer Genome Atlas database with over 800 samples and several omics datasets such as mRNA, miRNA, DNA methylation, which we used to select 2701 features that were statistically significant to differ between cancer and control samples using the Monte Carlo Feature Selection and Interdependency Discovery algorithm, from an initial total of 417,486. Their biological impact on cancerogenesis was confirmed using: statistical analysis, natural language processing, linear and machine learning models as well as: transcription factors identification, drugs and 3D chromatin structure analyses. Classification of cancer vs control samples on the selected features returned high classification weighted Accuracy from 0.91 to 0.98 depending on feature-type: mRNA, miRNA, DNA methylation, and classification algorithm. In general, cancer samples showed lower expression of differentially expressed genes and increased {beta}-values of differentially methylated sites. We identified mRNAs whose expression is well explained by miRNA expression and differentially methylated sites {beta}-values. We recognized differentially methylated sites possibly affecting NRF1 and MXI1 transcription factors binding, causing a disturbance in NKAPL and PITX1 expression, respectively. Our 3D models showed more loosely packed chromatin in cancer. This study successfully points out numerous possible regulatory dependencies.

cancer biology↗

The challenge of chromatin model comparison and validation a project from the first international 4D Nucleome Hackathon

The computational modeling of chromatin structure is highly complex and challenging due to the hierarchical organization of chromatin, which reflects its diverse biophysical principles, as well as inherent dynamism, which underlies its complexity. The variety of methods for chromatin structure modeling, which are based on different approaches, assumptions and scales of modeling, suggests that there is a necessity for a comprehensive benchmark. This inspired us to conduct a project at the NIH-funded 4D Nucleome Hackathon on March 18-21, 2024 at The University of Washington in Seattle, USA. The hackathon provided an amazing opportunity to gather an international, multi-institutional and unbiased group of experts to discuss, understand and undertake the challenges of chromatin model comparison and validation. These challenges seem straightforward in theory, however in practice, they are challenging and ambiguous. To address them, we developed a bioinformatics workflow for chromatin model comparison and validation, in which we use distance matrices to represent chromatin models, and we calculate Spearman correlation coefficients between pairs of matrices to estimate correlations between models, as well as between models and experimental data. During the 4-day hackathon, we tested our workflow on several distinct software packages for chromatin structure modeling and we discovered several challenges that include: 1) different aspects of chromatin biophysics and scales complicate model comparisons, 2) expertise in biology, bioinformatics, and physics is necessary to conduct a comprehensive research on chromatin structure, 3) bioinformatic software, which is often developed in academic settings, is characterized by insufficient support and documentation. Therefore, our work constitutes a way to advance the modeling of the 3D organization of the human genome, while emphasizing the importance of establishing guidelines for software development and standardization.

genomics↗

An integrated view of the structure and function of the human 4D nucleome

The dynamic three-dimensional (3D) organization of the human genome (the "4D Nucleome") is closely linked to genome function. Here, we integrate a wide variety of genomic data generated by the 4D Nucleome Project to provide a detailed view of human 3D genome organization in widely used embryonic stem cells (H1-hESCs) and immortalized fibroblasts (HFFc6). We provide extensive benchmarking of 3D genome mapping assays and integrate these diverse datasets to annotate spatial genomic features across scales. The data reveal a rich complexity of chromatin domains and their sub-nuclear positions, and over one hundred thousand structural loops and promoter-enhancer interactions. We developed 3D models of population-based and individual cell-to-cell variation in genome structure, establishing connections between chromosome folding, nuclear organization, chromatin looping, gene transcription, and DNA replication. We demonstrate the use of computational methods to predict genome folding from DNA sequence, uncovering potential effects of genetic variants on genome structure and function. Together, this comprehensive analysis contributes insights into human genome organization and enhances our understanding of connections between the regulation of genome function and 3D genome organization in general.

genomics↗

Multiscale Molecular Modelling of Chromatin with MultiMM: From Nucleosomes to the Whole Genome

MotivationWe present a user-friendly 3D chromatin simulation model based on OpenMM, addressing the challenges posed by existing models with use-specific implementations. Our approach employs a multi-scale energy minimization strategy, capturing chromatins hierarchical structure. Initiating with a Hilbert curve-based structure, users can input files specifying nucleosome positioning, loops, compartments, or subcompartments. ResultsThe model utilizes an energy minimization approach with a large choice of numerical integrators, providing the entire genomes structure within minutes. Output files include the generated structures for each chromosome, offering a versatile and accessible tool for chromatin simulation in bioinformatics studies. Furthermore, MultiMM is capable of producing nucleosomeresolution structures by making simplistic geometric assumptions about the structure and the density of nucleosomes on the DNA. Code availabilityOpen-source software and the manual are freely available on https://github.com/SFGLab/MultiMM.

bioinformatics↗

ConsensuSV-ONT - a modern method for accurate structural variant calling

The improvements in sequencing technology make the development of new tools for the detection of structural variance more and more common. However, the tools available for the long-read Oxford Nanopore sequencing are limited, and it is hard to choose one, which is the best. That is why there is a need to create a tool based on consensus that combines existing work in order to discover a set of high-quality, reliable structural variants that can be used for further downstream analysis. The field has also been subject to revolution in machine learning techniques, especially deep learning. In the spirit of the aforementioned need and developments, we propose a novel, fully automated ConsensuSV-ONT algorithm. The method uses six independent, state-of-the-art structural variant callers for long-read sequencing along with a convolutional neural network for filtering high-quality variants. We provide a runtime environment in the form of a docker image, wrapping a nextflow pipeline for efficient processing using parallel computing. The solution is complete in its form and is ready to use not only by computer scientists but accessible and easy to use for everyone working with Oxford Nanopore long-read sequencing data.

bioinformatics↗

Improved cohesin HiChIP protocol and bioinformatic analysis for robust detection of chromatin loops and stripes

Chromosome Conformation Capture (3C) methods, including Hi-C (a high-throughput variation of 3C), detect pairwise interactions between DNA regions, enabling the reconstruction of chromatin architecture in the nucleus. HiChIP is a modification of the Hi-C experiment, which includes a chromatin immunoprecipitation step (ChIP), allowing genome-wide identification of chromatin contacts mediated by a protein of interest. In mammalian cells, cohesin protein complex is one of the major players in the establishment of chromatin loops. We present an improved cohesin HiChIP experimental protocol. Using comprehensive bioinformatic analysis, we show that performing cohesin HiChIP with two cross-linking agents (formaldehyde [FA] and EGS) instead of the typically used FA alone, results in a substantially better signal-to-noise ratio, higher ChIP efficiency and improved detection of chromatin loops and architectural stripes. Additionally, we propose an automated pipeline called nf-HiChIP (https://github.com/SFGLab/hichip-nf-pipeline) for processing HiChIP samples starting from raw sequencing reads data and ending with a set of significant chromatin interactions (loops), which allows efficient and timely analysis of multiple samples in parallel, without the need of additional ChIP-seq experiments. Finally, using novel approaches for biophysical modelling and stripe calling we generate accurate loop extrusion polymer models for a region of interest and a detailed picture of architectural stripes, respectively.

genomics↗

Tri-omic mapping revealed concerted dynamics of 3D epigenome and transcriptome in brain cells

Exploring the genomic basis of transcriptional programs has been a longstanding research focus. Here, we report a high-throughput single-cell tri-omic method to capture chromatin accessibility, interaction, and RNA simultaneously (ChAIR). After validating in cultured cells, we applied ChAIR to brain cells across mouse lifespan and delineated the concerted dynamics of 3D-epigenomic architecture and transcription during maturation and aging. Particularly, ultra-long chromatin megacontacts and promoter-associated 3D-epigenomic states are effective in defining cell identity and revealing spatially-resolved anatomic specificity. Importantly, we found that neurons in different brain regions and non-neuronal cells may undergo divergent genomic mechanisms during differentiation and aging. Our results demonstrated ChAIRs robustness of connecting chromatin folding architecture with cellular property and its potential applications to address complex questions in single-cell resolution and spatial specificity.

genomics↗

HiCDiffusion - diffusion-enhanced, transformer-based prediction of chromatin interactions from DNA sequences

Prediction of chromatin interactions from DNA sequence has been a significant research challenge in the last couple of years. Several solutions have been proposed, most of which are based on encoder-decoder architecture, where 1D sequence is convoluted, encoded into the latent representation, and then decoded using 2D convolutions into the Hi-C pairwise chromatin spatial proximity matrix. Those methods, while obtaining high correlation scores and improved metrics, produce Hi-C matrices that are artificial - they are blurred due to the deep learning model architecture. In our study, we propose the HiCDiffusion model that addresses this problem. We first train the encoder-decoder neural network and then use it as a component of the diffusion model - where we guide the diffusion using a latent representation of the sequence, as well as the final output from the encoder-decoder. That way, we obtain the high-resolution Hi-C matrices that not only better resemble the experimental results - improving the Frechet inception distance by an average of 12 times, with the highest improvement of 35 times - but also obtain similar classic metrics to current state-of-the-art encoder-decoder architectures used for the task.

genomics↗

LoopSage: An Energy-Based Monte Carlo approach for the Loop Extrusion Modelling of Chromatin

The connection between the patterns observed in 3C-type experiments and the modeling of polymers remains unresolved. This paper presents a simulation pipeline that generates thermodynamic ensembles of 3D structures for topologically associated domain (TAD) regions by loop extrusion model (LEM). The simulations consist of two main components: a stochastic simulation phase, employing a Monte Carlo approach to simulate the binding positions of cohesins, and a dynamical simulation phase, utilizing these cohesins positions to create 3D structures. In this approach, the systems total energy is the combined result of the Monte Carlo energy and the molecular simulation energy, which are iteratively updated. The structural maintenance of chromosomes (SMC) protein complexes are represented as loop extruders, while the CCCTC-binding factor (CTCF) locations on DNA sequence are modeled as energy minima on the Monte Carlo energy landscape. Finally, the spatial distances between DNA segments from ChIA-PET experiments are compared with the computer simulations, and we observe significant Pearson correlations between predictions and the real data. LoopSage model offers a fresh perspective on chromatin loop dynamics, allowing us to observe phase transition between sparse and condensed states in chromatin.

genomics↗

Chromatin network rearrangements in differentiation and cancer reveal connections between evolutionary processes and gene regulation

Cancer cells are highly plastic, allowing them to adapt to changing conditions. Genes related to basic cellular processes evolved in ancient species, while more specialized genes appeared later with multicellularity (metazoan genes) or even after mammals evolved. Transcriptomic analyses have shown that ancient genes are up-regulated in cancer, while metazoan-origin genes are inactivated. Despite the importance of these observations, the underlying mechanisms remain unexplored. Here, we study local and global epigenomic mechanisms that may regulate genes from specific evolutionary periods. Using evolutionary gene age data, we characterize the epigenomic landscape, gene expression regulation, and chromatin organization in three cell types: human embryonic stem cells, normal B-cells, and primary cells from Chronic Lymphocytic Leukemia, a B-cell malignancy. We identify topological changes in chromatin organization during differentiation observing patterns in Polycomb repression and RNA Polymerase II pausing, which are reversed during oncogenesis. Beyond the non-random organization of genes and chromatin features in the 3D epigenome, we suggest that these patterns lead to preferential interactions among ancient, intermediate, and recent genes, mediated by RNA Polymerase II, Polycomb, and the lamina, respectively. Our findings shed light on gene regulation according to evolutionary age and suggest this organization changes across differentiation and oncogenesis.

cancer biology↗

cudaMMC - GPU-enhanced Multiscale Monte Carlo Chromatin 3D Modelling

MotivationInvestigating the 3D structure of chromatin provides new insights into transcriptional regulation. With the advancements in 3C new-sequencing techniques such as ChiA-PET and Hi-C, there has been a substantial increase in the volume of collected data, necessitating faster algorithms for chromatin spatial modelling. This study presents the cudaMMC method, which utilises the Simulated Annealing Monte Carlo approach extended by GPU-accelerated computing to generate ensembles of chromatin 3D structures efficiently. ResultsThe cudaMMC calculations demonstrate significantly faster performance and lower (better) model scores compared to our previous method on the same workstation. cudaMMC substantially reduces the computation time required for generating ensembles of large chromatin models, making it an invaluable tool for studying chromatin spatial conformation. AvailabilityOpen-source software and manual and sample data are freely available on https://github.com/SFGLab/cudaMMC ContactDariusz.Plewczynski@pw.edu.pl

bioinformatics↗

BERTrand - peptide:TCR binding prediction using Bidirectional Encoder Representations from Transformers augmented with random TCR pairing

MotivationThe advent of T cell receptor (TCR) sequencing experiments allowed for a significant increase in the amount of peptide:TCR binding data available and a number of machine learning models appeared in recent years. High-quality prediction models for a fixed epitope sequence are feasible, provided enough known binding TCR sequences are available. However, their performance drops significantly for previously unseen peptides. ResultsWe prepare the dataset of known peptide:TCR binders and augment it with negative decoys created using healthy donors T-cell repertoires. We employ deep learning methods commonly applied in Natural Language Processing (NLP) to train part a peptide:TCR binding model with a degree of cross-peptide generalization (0.66 AUROC). We demonstrate that BERTrand outperforms the published methods when evaluated on peptide sequences not used during model training. AvailabilityThe datasets and the code for model training are available at https://github.com/SFGLab/bertrand Contactalexander.myronov@gmail.com, dariusz.plewczynski@pw.edu.pl Supplementary informationSupplementary data are available at Bioinformatics online.

immunology↗

Enhanced performance of gene expression predictive models with protein-mediated spatial chromatin interactions

There have been multiple attempts to predict the expression of the genes based on the sequence, epigenetics, and various other factors. To improve those predictions, we have decided to investigate adding protein-specific 3D interactions that play a major role in the compensation of the chromatin structure in the cell nucleus. To achieve this, we have used the architecture of one of the state-of-the-art algorithms, ExPecto (J. Zhou et al., 2018), and investigated the changes in the model metrics upon adding the spatially relevant data. We have used ChIA-PET interactions that are mediated by cohesin (24 cell lines), CTCF (4 cell lines), and RNAPOL2 (4 cell lines). As the output of the study, we have developed the Spatial Gene Expression (SpEx) algorithm that shows statistically significant improvements in most cell lines.

genomics↗

Intrinsic linking of chromatin fiber in human cells

MotivationWe propose a practical algorithm based on graph theory, with the purpose of identifying CTCF-mediated chromatin loops that are linked in 3D space. Our method is based finding clique minors in graphs constructed from pairwise chromatin interaction data obtained from the ChIA-PET experiments. We show that such a graph structure, representing a particular arrangement of loops, mathematically necessitates linking, if co-occurring in an individual cell. The presence of these linked structures can advance our understanding of the principles of spatial organization of the genome. ResultsWe apply our method to graphs created from in situ ChIA-PET data for GM12878, H1ESC, HFFC6 and WTC11 cell lines, and from long-read ChIA-PET data. We look at these datasets as divided into CCDs - closely interconnected regions defined based on CTCF loops. We find numerous candidate regions with minors, indicating the presence of links. The graph-theoretic characteristics of these linked regions, including betweenness and closeness centrality, differ from regions without, in which no minors were found, which supports their non-random nature. We also look at the position of the linked regions with respect to chromatin compartments. AvailabilityThe implementation of the algorithm is available at https://github.com/SFGLab/cKNOTs ContactDariusz.Plewczynski@pw.edu.pl

genomics↗