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MoleculeExperiment enables consistent infrastructure for molecule-resolved spatial omics data in bioconductor. MoleculeExperiment为生物导管中分子解析的空间组学数据提供了一致的基础设施。
IF 4.4 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad550
Bárbara Zita Peters Couto, Nicholas Robertson, Ellis Patrick, Shila Ghazanfar
{"title":"MoleculeExperiment enables consistent infrastructure for molecule-resolved spatial omics data in bioconductor.","authors":"Bárbara Zita Peters Couto, Nicholas Robertson, Ellis Patrick, Shila Ghazanfar","doi":"10.1093/bioinformatics/btad550","DOIUrl":"10.1093/bioinformatics/btad550","url":null,"abstract":"<p><strong>Motivation: </strong>Imaging-based spatial transcriptomics (ST) technologies have achieved subcellular resolution, enabling detection of individual molecules in their native tissue context. Data associated with these technologies promise unprecedented opportunity toward understanding cellular and subcellular biology. However, in R/Bioconductor, there is a scarcity of existing computational infrastructure to represent such data, and particularly to summarize and transform it for existing widely adopted computational tools in single-cell transcriptomics analysis, including SingleCellExperiment and SpatialExperiment (SPE) classes. With the emergence of several commercial offerings of imaging-based ST, there is a pressing need to develop consistent data structure standards for these technologies at the individual molecule-level.</p><p><strong>Results: </strong>To this end, we have developed MoleculeExperiment, an R/Bioconductor package, which (i) stores molecule and cell segmentation boundary information at the molecule-level, (ii) standardizes this molecule-level information across different imaging-based ST technologies, including 10× Genomics' Xenium, and (iii) streamlines transition from a MoleculeExperiment object to a SpatialExperiment object. Overall, MoleculeExperiment is generally applicable as a data infrastructure class for consistent analysis of molecule-resolved spatial omics data.</p><p><strong>Availability and implementation: </strong>The MoleculeExperiment package is publicly available on Bioconductor at https://bioconductor.org/packages/release/bioc/html/MoleculeExperiment.html. Source code is available on Github at: https://github.com/SydneyBioX/MoleculeExperiment. The vignette for MoleculeExperiment can be found at https://bioconductor.org/packages/release/bioc/html/MoleculeExperiment.html.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":4.4,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10307715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AliSim-HPC: parallel sequence simulator for phylogenetics. AliSim HPC:系统发育学的并行序列模拟器。
IF 4.4 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad540
Nhan Ly-Trong, Giuseppe M J Barca, Bui Quang Minh
{"title":"AliSim-HPC: parallel sequence simulator for phylogenetics.","authors":"Nhan Ly-Trong, Giuseppe M J Barca, Bui Quang Minh","doi":"10.1093/bioinformatics/btad540","DOIUrl":"10.1093/bioinformatics/btad540","url":null,"abstract":"<p><strong>Motivation: </strong>Sequence simulation plays a vital role in phylogenetics with many applications, such as evaluating phylogenetic methods, testing hypotheses, and generating training data for machine-learning applications. We recently introduced a new simulator for multiple sequence alignments called AliSim, which outperformed existing tools. However, with the increasing demands of simulating large data sets, AliSim is still slow due to its sequential implementation; for example, to simulate millions of sequence alignments, AliSim took several days or weeks. Parallelization has been used for many phylogenetic inference methods but not yet for sequence simulation.</p><p><strong>Results: </strong>This paper introduces AliSim-HPC, which, for the first time, employs high-performance computing for phylogenetic simulations. AliSim-HPC parallelizes the simulation process at both multi-core and multi-CPU levels using the OpenMP and message passing interface (MPI) libraries, respectively. AliSim-HPC is highly efficient and scalable, which reduces the runtime to simulate 100 large gap-free alignments (30 000 sequences of one million sites) from over one day to 11 min using 256 CPU cores from a cluster with six computing nodes, a 153-fold speedup. While the OpenMP version can only simulate gap-free alignments, the MPI version supports insertion-deletion models like the sequential AliSim.</p><p><strong>Availability and implementation: </strong>AliSim-HPC is open-source and available as part of the new IQ-TREE version v2.2.3 at https://github.com/iqtree/iqtree2/releases with a user manual at http://www.iqtree.org/doc/AliSim.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10491910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optimal selection of suitable templates in protein interface prediction. 在蛋白质界面预测中优化选择合适的模板。
IF 4.4 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad510
Steven Grudman, J Eduardo Fajardo, Andras Fiser
{"title":"Optimal selection of suitable templates in protein interface prediction.","authors":"Steven Grudman, J Eduardo Fajardo, Andras Fiser","doi":"10.1093/bioinformatics/btad510","DOIUrl":"10.1093/bioinformatics/btad510","url":null,"abstract":"<p><strong>Motivation: </strong>Molecular-level classification of protein-protein interfaces can greatly assist in functional characterization and rational drug design. The most accurate protein interface predictions rely on finding homologous proteins with known interfaces since most interfaces are conserved within the same protein family. The accuracy of these template-based prediction approaches depends on the correct choice of suitable templates. Choosing the right templates in the immunoglobulin superfamily (IgSF) is challenging because its members share low sequence identity and display a wide range of alternative binding sites despite structural homology.</p><p><strong>Results: </strong>We present a new approach to predict protein interfaces. First, template-specific, informative evolutionary profiles are established using a mutual information-based approach. Next, based on the similarity of residue level conservation scores derived from the evolutionary profiles, a query protein is hierarchically clustered with all available template proteins in its superfamily with known interface definitions. Once clustered, a subset of the most closely related templates is selected, and an interface prediction is made. These initial interface predictions are subsequently refined by extensive docking. This method was benchmarked on 51 IgSF proteins and can predict nontrivial interfaces of IgSF proteins with an average and median F-score of 0.64 and 0.78, respectively. We also provide a way to assess the confidence of the results. The average and median F-scores increase to 0.8 and 0.81, respectively, if 27% of low confidence cases and 17% of medium confidence cases are removed. Lastly, we provide residue level interface predictions, protein complexes, and confidence measurements for singletons in the IgSF.</p><p><strong>Availability and implementation: </strong>Source code is freely available at: https://gitlab.com/fiserlab.org/interdct_with_refinement.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":4.4,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10491951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10335292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MULGA, a unified multi-view graph autoencoder-based approach for identifying drug-protein interaction and drug repositioning. MULGA,一种基于多视图图自动编码器的统一方法,用于识别药物-蛋白质相互作用和药物重新定位。
IF 5.8 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad524
Jiani Ma, Chen Li, Yiwen Zhang, Zhikang Wang, Shanshan Li, Yuming Guo, Lin Zhang, Hui Liu, Xin Gao, Jiangning Song
{"title":"MULGA, a unified multi-view graph autoencoder-based approach for identifying drug-protein interaction and drug repositioning.","authors":"Jiani Ma,&nbsp;Chen Li,&nbsp;Yiwen Zhang,&nbsp;Zhikang Wang,&nbsp;Shanshan Li,&nbsp;Yuming Guo,&nbsp;Lin Zhang,&nbsp;Hui Liu,&nbsp;Xin Gao,&nbsp;Jiangning Song","doi":"10.1093/bioinformatics/btad524","DOIUrl":"10.1093/bioinformatics/btad524","url":null,"abstract":"<p><strong>Motivation: </strong>Identifying drug-protein interactions (DPIs) is a critical step in drug repositioning, which allows reuse of approved drugs that may be effective for treating a different disease and thereby alleviates the challenges of new drug development. Despite the fact that a great variety of computational approaches for DPI prediction have been proposed, key challenges, such as extendable and unbiased similarity calculation, heterogeneous information utilization, and reliable negative sample selection, remain to be addressed.</p><p><strong>Results: </strong>To address these issues, we propose a novel, unified multi-view graph autoencoder framework, termed MULGA, for both DPI and drug repositioning predictions. MULGA is featured by: (i) a multi-view learning technique to effectively learn authentic drug affinity and target affinity matrices; (ii) a graph autoencoder to infer missing DPI interactions; and (iii) a new \"guilty-by-association\"-based negative sampling approach for selecting highly reliable non-DPIs. Benchmark experiments demonstrate that MULGA outperforms state-of-the-art methods in DPI prediction and the ablation studies verify the effectiveness of each proposed component. Importantly, we highlight the top drugs shortlisted by MULGA that target the spike glycoprotein of severe acute respiratory syndrome coronavirus 2 (SAR-CoV-2), offering additional insights into and potentially useful treatment option for COVID-19. Together with the availability of datasets and source codes, we envision that MULGA can be explored as a useful tool for DPI prediction and drug repositioning.</p><p><strong>Availability and implementation: </strong>MULGA is publicly available for academic purposes at https://github.com/jianiM/MULGA/.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":" ","pages":""},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10518077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10049260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
iDeLUCS: a deep learning interactive tool for alignment-free clustering of DNA sequences. iducus:用于DNA序列无比对聚类的深度学习交互式工具。
IF 5.8 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad508
Pablo Millan Arias, Kathleen A Hill, Lila Kari
{"title":"iDeLUCS: a deep learning interactive tool for alignment-free clustering of DNA sequences.","authors":"Pablo Millan Arias,&nbsp;Kathleen A Hill,&nbsp;Lila Kari","doi":"10.1093/bioinformatics/btad508","DOIUrl":"https://doi.org/10.1093/bioinformatics/btad508","url":null,"abstract":"<p><strong>Summary: </strong>We present an interactive Deep Learning-based software tool for Unsupervised Clustering of DNA Sequences (iDeLUCS), that detects genomic signatures and uses them to cluster DNA sequences, without the need for sequence alignment or taxonomic identifiers. iDeLUCS is scalable and user-friendly: its graphical user interface, with support for hardware acceleration, allows the practitioner to fine-tune the different hyper-parameters involved in the training process without requiring extensive knowledge of deep learning. The performance of iDeLUCS was evaluated on a diverse set of datasets: several real genomic datasets from organisms in kingdoms Animalia, Protista, Fungi, Bacteria, and Archaea, three datasets of viral genomes, a dataset of simulated metagenomic reads from microbial genomes, and multiple datasets of synthetic DNA sequences. The performance of iDeLUCS was compared to that of two classical clustering algorithms (k-means++ and GMM) and two clustering algorithms specialized in DNA sequences (MeShClust v3.0 and DeLUCS), using both intrinsic cluster evaluation metrics and external evaluation metrics. In terms of unsupervised clustering accuracy, iDeLUCS outperforms the two classical algorithms by an average of ∼20%, and the two specialized algorithms by an average of ∼12%, on the datasets of real DNA sequences analyzed. Overall, our results indicate that iDeLUCS is a robust clustering method suitable for the clustering of large and diverse datasets of unlabeled DNA sequences.</p><p><strong>Availability and implementation: </strong>iDeLUCS is available at https://github.com/Kari-Genomics-Lab/iDeLUCS under the terms of the MIT licence.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10281965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cell-connectivity-guided trajectory inference from single-cell data. 基于单细胞数据的细胞连接引导轨迹推断。
IF 5.8 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad515
Johannes Smolander, Sini Junttila, Laura L Elo
{"title":"Cell-connectivity-guided trajectory inference from single-cell data.","authors":"Johannes Smolander,&nbsp;Sini Junttila,&nbsp;Laura L Elo","doi":"10.1093/bioinformatics/btad515","DOIUrl":"https://doi.org/10.1093/bioinformatics/btad515","url":null,"abstract":"<p><strong>Motivation: </strong>Single-cell RNA-sequencing enables cell-level investigation of cell differentiation, which can be modelled using trajectory inference methods. While tremendous effort has been put into designing these methods, inferring accurate trajectories automatically remains difficult. Therefore, the standard approach involves testing different trajectory inference methods and picking the trajectory giving the most biologically sensible model. As the default parameters are often suboptimal, their tuning requires methodological expertise.</p><p><strong>Results: </strong>We introduce Totem, an open-source, easy-to-use R package designed to facilitate inference of tree-shaped trajectories from single-cell data. Totem generates a large number of clustering results, estimates their topologies as minimum spanning trees, and uses them to measure the connectivity of the cells. Besides automatic selection of an appropriate trajectory, cell connectivity enables to visually pinpoint branching points and milestones relevant to the trajectory. Furthermore, testing different trajectories with Totem is fast, easy, and does not require in-depth methodological knowledge.</p><p><strong>Availability and implementation: </strong>Totem is available as an R package at https://github.com/elolab/Totem.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10335308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
PyDESeq2: a python package for bulk RNA-seq differential expression analysis. PyDESeq2:用于批量RNA-seq差异表达分析的python包。
IF 5.8 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad547
Boris Muzellec, Maria Teleńczuk, Vincent Cabeli, Mathieu Andreux
{"title":"PyDESeq2: a python package for bulk RNA-seq differential expression analysis.","authors":"Boris Muzellec,&nbsp;Maria Teleńczuk,&nbsp;Vincent Cabeli,&nbsp;Mathieu Andreux","doi":"10.1093/bioinformatics/btad547","DOIUrl":"https://doi.org/10.1093/bioinformatics/btad547","url":null,"abstract":"<p><strong>Summary: </strong>We present PyDESeq2, a python implementation of the DESeq2 workflow for differential expression analysis on bulk RNA-seq data. This re-implementation yields similar, but not identical, results: it achieves higher model likelihood, allows speed improvements on large datasets, as shown in experiments on TCGA data, and can be more easily interfaced with modern python-based data science tools.</p><p><strong>Availability and implementation: </strong>PyDESeq2 is released as an open-source software under the MIT license. The source code is available on GitHub at https://github.com/owkin/PyDESeq2 and documented at https://pydeseq2.readthedocs.io. PyDESeq2 is part of the scverse ecosystem.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10631512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Multimodal learning of noncoding variant effects using genome sequence and chromatin structure. 利用基因组序列和染色质结构研究非编码变异效应的多模态学习。
IF 5.8 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad541
Wuwei Tan, Yang Shen
{"title":"Multimodal learning of noncoding variant effects using genome sequence and chromatin structure.","authors":"Wuwei Tan,&nbsp;Yang Shen","doi":"10.1093/bioinformatics/btad541","DOIUrl":"https://doi.org/10.1093/bioinformatics/btad541","url":null,"abstract":"<p><strong>Motivation: </strong>A growing amount of noncoding genetic variants, including single-nucleotide polymorphisms, are found to be associated with complex human traits and diseases. Their mechanistic interpretation is relatively limited and can use the help from computational prediction of their effects on epigenetic profiles. However, current models often focus on local, 1D genome sequence determinants and disregard global, 3D chromatin structure that critically affects epigenetic events.</p><p><strong>Results: </strong>We find that noncoding variants of unexpected high similarity in epigenetic profiles, with regards to their relatively low similarity in local sequences, can be largely attributed to their proximity in chromatin structure. Accordingly, we have developed a multimodal deep learning scheme that incorporates both data of 1D genome sequence and 3D chromatin structure for predicting noncoding variant effects. Specifically, we have integrated convolutional and recurrent neural networks for sequence embedding and graph neural networks for structure embedding despite the resolution gap between the two types of data, while utilizing recent DNA language models. Numerical results show that our models outperform competing sequence-only models in predicting epigenetic profiles and their use of long-range interactions complement sequence-only models in extracting regulatory motifs. They prove to be excellent predictors for noncoding variant effects in gene expression and pathogenicity, whether in unsupervised \"zero-shot\" learning or supervised \"few-shot\" learning.</p><p><strong>Availability and implementation: </strong>Codes and data can be accessed at https://github.com/Shen-Lab/ncVarPred-1D3D and https://zenodo.org/record/7975777.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10631515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Deep Generative Decoder: MAP estimation of representations improves modelling of single-cell RNA data. 深度生成解码器:表征的 MAP 估计改进了单细胞 RNA 数据建模。
IF 4.4 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad497
Viktoria Schuster, Anders Krogh
{"title":"The Deep Generative Decoder: MAP estimation of representations improves modelling of single-cell RNA data.","authors":"Viktoria Schuster, Anders Krogh","doi":"10.1093/bioinformatics/btad497","DOIUrl":"10.1093/bioinformatics/btad497","url":null,"abstract":"<p><strong>Motivation: </strong>Learning low-dimensional representations of single-cell transcriptomics has become instrumental to its downstream analysis. The state of the art is currently represented by neural network models, such as variational autoencoders, which use a variational approximation of the likelihood for inference.</p><p><strong>Results: </strong>We here present the Deep Generative Decoder (DGD), a simple generative model that computes model parameters and representations directly via maximum a posteriori estimation. The DGD handles complex parameterized latent distributions naturally unlike variational autoencoders, which typically use a fixed Gaussian distribution, because of the complexity of adding other types. We first show its general functionality on a commonly used benchmark set, Fashion-MNIST. Secondly, we apply the model to multiple single-cell datasets. Here, the DGD learns low-dimensional, meaningful, and well-structured latent representations with sub-clustering beyond the provided labels. The advantages of this approach are its simplicity and its capability to provide representations of much smaller dimensionality than a comparable variational autoencoder.</p><p><strong>Availability and implementation: </strong>scDGD is available as a python package at https://github.com/Center-for-Health-Data-Science/scDGD. The remaining code is made available here: https://github.com/Center-for-Health-Data-Science/dgd.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":"39 9","pages":""},"PeriodicalIF":4.4,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10647474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
INTEGRATE-Circ and INTEGRATE-Vis: unbiased detection and visualization of fusion-derived circular RNA. 整合Circ和整合Vis:融合衍生的环状RNA的无偏检测和可视化。
IF 5.8 3区 生物学
Bioinformatics Pub Date : 2023-09-02 DOI: 10.1093/bioinformatics/btad569
Jace Webster, Hung Mai, Amy Ly, Christopher Maher
{"title":"INTEGRATE-Circ and INTEGRATE-Vis: unbiased detection and visualization of fusion-derived circular RNA.","authors":"Jace Webster,&nbsp;Hung Mai,&nbsp;Amy Ly,&nbsp;Christopher Maher","doi":"10.1093/bioinformatics/btad569","DOIUrl":"10.1093/bioinformatics/btad569","url":null,"abstract":"<p><strong>Motivation: </strong>Backsplicing of RNA results in circularized rather than linear transcripts, known as circular RNA (circRNA). A recently discovered and poorly understood subset of circRNAs that are composed of multiple genes, termed fusion-derived circular RNAs (fcircRNAs), represent a class of potential biomarkers shown to have oncogenic potential. Detection of fcircRNAs eludes existing analytical tools, making it difficult to more comprehensively assess their prevalence and function. Improved detection methods may lead to additional biological and clinical insights related to fcircRNAs.</p><p><strong>Results: </strong>We developed the first unbiased tool for detecting fcircRNAs (INTEGRATE-Circ) and visualizing fcircRNAs (INTEGRATE-Vis) from RNA-Seq data. We found that INTEGRATE-Circ was more sensitive, precise and accurate than other tools based on our analysis of simulated RNA-Seq data and our tool was able to outperform other tools in an analysis of public lymphoblast cell line data. Finally, we were able to validate in vitro three novel fcircRNAs detected by INTEGRATE-Circ in a well-characterized breast cancer cell line.</p><p><strong>Availability and implementation: </strong>Open source code for INTEGRATE-Circ and INTEGRATE-Vis is available at https://www.github.com/ChrisMaherLab/INTEGRATE-CIRC and https://www.github.com/ChrisMaherLab/INTEGRATE-Vis.</p>","PeriodicalId":8903,"journal":{"name":"Bioinformatics","volume":" ","pages":""},"PeriodicalIF":5.8,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10234464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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