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A Metric to Characterize Differentially Methylated Region Sets Detected from Methylation Array Data 表征从甲基化阵列数据中检测到的差异甲基化区域集的度量
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-08-16 DOI: 10.2174/1574893618666230816141723
Xiaoqing Peng, Wanxin Cui, Wenjin Zhang, Zihao Li, Xiaoshu Zhu, L. Yuan, Ji Li
Identifying differentially methylated region (DMR) is a basic but important task in epigenomics, which can help investigate the mechanisms of diseases and provide methylation biomarkers for screening diseases. A set of methods have been proposed to identify DMRs from methylation array data. However, it lacks effective metrics to characterize different DMR sets and enable a straight way for comparison.In this study, we introduce a metric, DMRn, to characterize DMR sets detected by different methods from methylation array data. To calculate DMRn, firstly, the methylation differences of DMRs are recalculated by incorporating the correlations between probes and their represented CpGs. Then, DMRn is calculated based on the number of probes and the dense of CpGs in DMRs with methylation differences falling in each interval.By comparing the DMRn of DMR sets predicted by seven methods on four scenario, the results demonstrate that DMRn can make an efficient guidance for selecting DMR sets, and provide new insights in cancer genomics studies by comparing the DMR sets from the related pathological states. For example, there are many regions with subtle methylation alteration in subtypes of prostate cancer are altered oppositely in the benign state, which may indicate a possible revision mechanism in benign prostate cancer.Futhermore, when applied to datasets that underwent different runs of batch effect removal, the DMRn can help to visualize the bias introduced by multi-runs of batch effect removal. The tool for calculating DMRn is available in the GitHub repository(https://github.com/xqpeng/DMRArrayMetric).
鉴定差异甲基化区(DMR)是表观基因组学中一项基本而重要的工作,有助于研究疾病的发生机制,并为疾病筛查提供甲基化生物标志物。提出了一套从甲基化阵列数据中识别DMRs的方法。然而,它缺乏有效的指标来表征不同的DMR集,并能够直接进行比较。在这项研究中,我们引入了一个度量,DMRn,来表征甲基化阵列数据中不同方法检测到的DMR集。为了计算DMRn,首先,通过结合探针与其所代表的CpGs之间的相关性,重新计算dmr的甲基化差异。然后,根据探针数量和dmr中CpGs的密度计算DMRn,甲基化差异在每个区间内下降。通过比较4种情况下7种方法预测的DMR集的DMRn,结果表明DMRn可以有效地指导DMR集的选择,并通过比较相关病理状态的DMR集,为癌症基因组学研究提供新的见解。例如,在前列腺癌亚型中,有许多具有细微甲基化改变的区域在良性状态下发生相反的改变,这可能提示良性前列腺癌中可能存在一种修正机制。此外,当应用于经历不同批次效果去除运行的数据集时,DMRn可以帮助可视化由多次批次效果去除运行引入的偏差。计算DMRn的工具可在GitHub存储库(https://github.com/xqpeng/DMRArrayMetric)中获得。
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引用次数: 0
Drug–target binding affinity prediction based on three-branched multiscale convolutional neural networks 基于三分支多尺度卷积神经网络的药物靶点结合亲和力预测
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-08-16 DOI: 10.2174/1574893618666230816090548
Yaoyao Lu, Junkai Liu, T. Jiang, Zhiming Cui, Hongjie Wu
New drugs are costly, time-consuming, and often accompanied by safety concerns. With the development of deep learning, computer-aided drug design has become more mainstream, and convolutional neural networks and graph neural networks have been widely used for drug–target affinity (DTA) prediction.The paper proposes a method of predicting DTA using graph convolutional networks and multiscale convolutional neural networks.We construct drug molecules into graph representation vectors and learn feature expressions through graph attention networks and graph convolutional networks. A three-branch convolutional neural network learns the local and global features of protein sequences, and the two feature representations are merged into a regression module to predict the DTA.We present a novel model to predict DTA, with a 2.5% improvement in the consistency index and a 21% accuracy improvement in terms of the mean squared error on the Davis dataset compared to DeepDTA. Morever, our method outperformed other mainstream DTA prediction models namely, GANsDTA, WideDTA, GraphDTA and DeepAffinity.The results showed that the use of multiscale convolutional neural networks was better than a single-branched convolutional neural network at capturing protein signatures and the use of graphs to express drug molecules yielded better results.
新药成本高、耗时长,而且往往伴随着安全问题。随着深度学习的发展,计算机辅助药物设计变得更加主流,卷积神经网络和图神经网络已被广泛用于药物-靶标亲和力(DTA)预测。本文提出了一种利用图卷积网络和多尺度卷积神经网络预测DTA的方法。我们将药物分子构建成图表示向量,并通过图注意力网络和图卷积网络学习特征表达。三分支卷积神经网络学习蛋白质序列的局部和全局特征,并将这两个特征表示合并到一个回归模块中以预测DTA。我们提出了一种预测DTA的新模型,与DeepDTA相比,Davis数据集的一致性指数提高了2.5%,均方误差的准确率提高了21%。此外,我们的方法优于其他主流DTA预测模型,即GANsDTA、WideDTA、GraphDTA和DeepAffinity。结果表明,在捕获蛋白质特征方面,使用多尺度卷积神经网络比使用单分支卷积神经网络更好,并且使用图来表达药物分子产生了更好的结果。
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引用次数: 0
TumorDet: A Breast Tumor Detection Model Based on Transfer Learning and ShuffleNet 肿瘤检测:一种基于迁移学习和ShuffleNet的乳腺肿瘤检测模型
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-08-15 DOI: 10.2174/1574893618666230815121150
Leying Pan, T. Zhang, Qiang Yang, Guoping Yang, Nan Han, Shaojie Qiao
Breast tumor is among the most malignant tumors and early detection can improve patient’s survival rate. Currently, mammography is the most reliable method for diagnosing breast tumor because of high image resolution. Because of the rapid development of medical and artificial intelligence techniques, computer-aided diagnosis technology can greatly improve the detection accuracy of breast tumors and medical imaging has begun to use deep-learning-based approaches. In this study, the TumorDet model is proposed to detect the benign and malignant lesions of breast tumor, which has positive significance for assisting doctors in diagnosis.We use the proposed TumorDet to analyze and predict breast tumors on the real MRI dataset.(1) We introduce an adaptive gamma correction (AGC) method to balance brightness equalization and increase the contrast of mammography images; (2) we use the ShuffleNet model to exchange information between different feature layers and extract the hidden high-level features of medical images; and (3) we use the transfer learning method to fine-tune the ShuffleNet model and obtain the optimal parameters.The proposed TumorDet model has shown that accuracy, sensitivity, and specificity reach 90.43%, 89.37%, and 87.81%, respectively. TumorDet performs well in the breast tumor detection task. In addition, we use the proposed TumorDet to conduct experiments on other tasks, such as forest fires, and the robustness of TumorDet is proved by experimental results.TumorDet employs the ShuffleNet model to exchange information between different feature layers without increasing the number of network parameters and applies transfer learning methods to further extract the basic features of medical images by fine-tuning. The model is beneficial for the localization and classification of breast tumors and also performs well in forest fire detection.
乳腺肿瘤是最恶性的肿瘤之一,早期发现可以提高患者的生存率。目前,乳房X光检查由于图像分辨率高,是诊断乳腺肿瘤最可靠的方法。由于医学和人工智能技术的快速发展,计算机辅助诊断技术可以大大提高乳腺肿瘤的检测精度,医学成像已经开始使用基于深度学习的方法。本研究提出了肿瘤Det模型来检测乳腺肿瘤的良恶性病变,对协助医生诊断具有积极意义。我们使用所提出的肿瘤Det在真实的MRI数据集上分析和预测乳腺肿瘤。(1) 我们介绍了一种自适应伽马校正(AGC)方法,以平衡亮度均衡并提高乳房X光摄影图像的对比度;(2) 我们使用ShuffleNet模型在不同的特征层之间交换信息,提取医学图像的隐藏高级特征;(3)利用迁移学习方法对ShuffleNet模型进行微调,得到最优参数。所提出的肿瘤检测模型的准确性、敏感性和特异性分别达到90.43%、89.37%和87.81%。肿瘤Det在乳腺肿瘤检测任务中表现良好。此外,我们使用所提出的TumorDet对森林火灾等其他任务进行了实验,实验结果证明了TumorDet的稳健性。TumorDet采用ShuffleNet模型在不增加网络参数数量的情况下在不同特征层之间交换信息,并应用迁移学习方法通过微调进一步提取医学图像的基本特征。该模型有利于乳腺肿瘤的定位和分类,在森林火灾探测中也表现良好。
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引用次数: 0
Revealing ANXA6 as a Novel Autophagy-related Target for Pre-eclampsia Based on the Machine Learning 基于机器学习揭示ANXA6作为子痫前期自噬相关的新靶点
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-08-07 DOI: 10.2174/1574893618666230807123016
Baoping Zhu, Huizhen Geng, Fan Yang, Yanxin Wu, Tiefeng Cao, Dongyu Wang, Zilian Wang
Preeclampsia (PE) is a severe pregnancy complication associated with autophagy.This research sought to uncover autophagy-related genes in pre-eclampsia through bioinformatics and machine learning.GSE75010 from the GEO series was subjected to WGCNA to identify key modular genes in PE. Autophagy genes retrieved from the THANATOS overlapped with the modular genes to yield PE-related autophagy genes. Furthermore, the crucial step involved the utilization of two machine learning algorithms (LASSO and SVM-RFE) for dimensionality reduction. The candidate gene was further verified by quantitative reverse transcription polymerase chain reaction, western blot, and immunohistochemistry. Preliminary experiments were conducted on HTR-8/SVneo cell lines to explore the role of candidate genes in autophagy regulation.WGCNA identified 291 genes from 5 hubs, and after overlapping with 1087 autophagy-related genes obtained from THANATOS, 42 PE-related ARGs were identified. ANXA6 was recognized as a potential target through SVM-RFE and LASSO analyses. The mRNA and protein expression of ANXA6 were verified in placenta samples. In HTR8/SVneo cells, modulating ANXA6 expression altered autophagy levels. Knocking down ANXA6 resulted in an anti-autophagy effect, which was reversed by treatment with CAL101, an inhibitor of PI3K, Akt, and mTOR.We observed that ANXA6 may serve as a possible PE action target and that autophagy may be crucial to the pathogenesis of PE.
子痫前期(PE)是一种与自噬相关的严重妊娠并发症。本研究试图通过生物信息学和机器学习来揭示子痫前期自噬相关基因。对GEO系列中的GSE75010进行WGCNA鉴定PE中的关键模块基因。从THANATOS中提取的自噬基因与模块基因重叠产生pe相关的自噬基因。此外,关键步骤涉及使用两种机器学习算法(LASSO和SVM-RFE)进行降维。通过定量逆转录聚合酶链反应、免疫印迹和免疫组织化学进一步验证候选基因。我们在HTR-8/SVneo细胞系上进行了初步实验,探讨候选基因在自噬调控中的作用。WGCNA从5个枢纽中鉴定出291个基因,与THANATOS获得的1087个自噬相关基因重叠后,鉴定出42个pe相关ARGs。通过SVM-RFE和LASSO分析,ANXA6被认为是潜在的靶点。在胎盘样品中验证了ANXA6 mRNA和蛋白的表达。在HTR8/SVneo细胞中,调节ANXA6表达可改变自噬水平。抑制ANXA6可产生抗自噬作用,这一作用可通过CAL101 (PI3K、Akt和mTOR的抑制剂)治疗逆转。我们观察到ANXA6可能是PE的一个可能的作用靶点,并且自噬可能对PE的发病机制至关重要。
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引用次数: 0
Full-length PacBio Amplicon Sequencing to Unveil RNA Editing Sites 全长PacBio扩增子测序揭示RNA编辑位点
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-08-03 DOI: 10.2174/1574893618666230803112142
Xiao-lu Zhu, Ming-ling Liao, Ya-Jie Zhu, Yun‐wei Dong
RNA editing enriches post-transcriptional sequence changes. Currently detecting RNA editing sites is mostly based on the Sanger sequencing platform and second-generation sequencing. However, detection with Sanger sequencing is limited by the disturbing background peaks using the direct sequencing method and the clone number using the clone sequencing method, while second-generation sequencing detection is constrained by its short read.We aimed to design a pipeline that can accurately detect RNA editing sites for full-length long-read amplicons to meet the requirement when focusing on a few specific genes of interest.We developed a novel high-throughput RNA editing sites detection pipeline based on the PacBio circular consensus sequences sequencing which is accurate with high-throughput and long-read coverage. We tested the pipeline on cytosolic malate dehydrogenase in the hard-shelled mussel Mytilus coruscus and further validated it using direct Sanger sequencing.Data generated from the PacBio circular consensus sequences (CCS) amplicons in three mussels were first filtered by quality and then selected by open reading frame. After filtering, 225-2047 sequences of the three mussels, respectively, were used to identify RNA editing sites. With corresponding genomic DNA sequences, we extracted 227-799 candidate RNA editing sites excluding heterozygous sites. We further figured out 7-11 final RESs using a new error model specially designed for RNA editing site detection. The resulting RNA editing sites all agree with the validation using the Sanger sequencing.We report a near-zero error rate method in identifying RNA editing sites of long-read amplicons with the use of PacBio CCS sequencing.
RNA编辑丰富了转录后序列的变化。目前检测RNA编辑位点主要基于Sanger测序平台和第二代测序。然而,Sanger测序的检测受到使用直接测序方法的干扰背景峰和使用克隆测序方法的克隆数量的限制,而第二代测序检测受到其短读数的限制。我们旨在设计一种管道,可以准确检测全长长读扩增子的RNA编辑位点,以满足关注少数感兴趣的特定基因的要求。我们开发了一种基于PacBio循环共有序列测序的新型高通量RNA编辑位点检测流水线,该流水线具有高通量和长读覆盖率。我们在硬壳贻贝Mytilus coruscus中测试了细胞溶质苹果酸脱氢酶,并使用直接Sanger测序进一步验证了这一点。从三种贻贝中的PacBio循环共有序列(CCS)扩增子产生的数据首先通过质量过滤,然后通过开放阅读框进行选择。过滤后,分别使用三种贻贝的225-2047个序列来鉴定RNA编辑位点。利用相应的基因组DNA序列,我们提取了227-799个候选RNA编辑位点,不包括杂合位点。我们使用专门为RNA编辑位点检测设计的新误差模型进一步计算出7-11个最终RES。得到的RNA编辑位点都与使用Sanger测序的验证一致。我们报道了一种使用PacBio-CCS测序识别长读扩增子RNA编辑位点的接近零错误率方法。
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引用次数: 0
Interplay Of miRNA-TF-Gene Through A Novel Six-Node Feed-Forward Loop Identified Inflammatory Genes As Key Regulators In Type-2 Diabetes mirna - tf基因通过一个新的六节点前馈回路相互作用,发现炎症基因是2型糖尿病的关键调节因子
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-07-31 DOI: 10.2174/1574893618666230731164002
G. S, Keshav T R, R. H, Fayaz Sm
Intricacy in the pathological processes of type 2 diabetes (T2D) invites a need to understand gene regulation at the systems level. However, deciphering the complex gene modulation requires regulatory network construction.The study aims to construct a six-node feed-forward loop (FFL) to analyze all the diverse inter- and intra- interactions between microRNAs (miRNA) and transcription factors (TF) involved in gene regulation.The study included 644 genes, 64 TF, and 448 miRNA. A cumulative hypergeometric test was employed to identify the significant miRNA-miRNA and miRNA-TF interaction pairs. In addition, experimentally proven TF-TF pairs were incorporated for the first time in the regulatory network to discern gene regulation. The networks were analyzed to identify crucial genes involved in T2D. Following this, gene ontology was predicted to recognize the biological function that is crucial in T2D.In T2D, the lowest gene regulation for a composite FFL occurs through a four-node FFL variant1 (TF- miRNA-miRNA-Gene, n=14) and the highest regulation via a five-node FFL variant2 (TF-TF-miRNA-Gene, n=353). However, the maximum gene regulation occurs via six-node miRNA FFL (miRNA-miRNA-TF-TF-gene-gene, n=23987). Subnetworks derived from the six-node miRNA-TF-gene regulatory networks identified interactions among TP53 and NFkB, hsa-miR-125-5p and hsa-miR-155-5p.The core regulation occurs through TP53, NFkB, hsa-miR-125-5p, and hsa-miR-155-5p FFL implicating the association of inflammation in the pathogenesis of T2D, which occurs majorly via six-node miRNA FFL. Thus regulatory network provides broader insights into the pathogenesis of T2D and can be extended to study the inflammatory mechanisms in various infections.
2型糖尿病(T2D)病理过程的复杂性需要在系统水平上理解基因调控。然而,破译复杂的基因调控需要构建调控网络。本研究旨在构建一个六节点前馈环(FFL)来分析参与基因调控的microRNAs (miRNA)与转录因子(TF)之间各种各样的相互作用。该研究包括644个基因,64个TF和448个miRNA。采用累积超几何检验来鉴定显著的miRNA-miRNA和miRNA-TF相互作用对。此外,实验证明TF-TF对首次被纳入调控网络以识别基因调控。对这些网络进行了分析,以确定与T2D有关的关键基因。在此之后,基因本体被预测为识别在T2D中至关重要的生物学功能。在T2D中,复合FFL的最低基因调控发生在四节点FFL变异1 (TF- miRNA-miRNA-Gene, n=14)和最高基因调控发生在五节点FFL变异2 (TF-TF- mirna - gene, n=353)。然而,最大的基因调控发生在六节点miRNA FFL (miRNA-miRNA- tf - tf -gene, n=23987)。来自六节点mirna - tf基因调控网络的子网络确定了TP53与NFkB、hsa-miR-125-5p和hsa-miR-155-5p之间的相互作用。核心调控通过TP53、NFkB、hsa-miR-125-5p和hsa-miR-155-5p FFL发生,暗示炎症与T2D发病机制的关联,主要通过六节点miRNA FFL发生。因此,调控网络为T2D的发病机制提供了更广泛的见解,并可扩展到研究各种感染的炎症机制。
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引用次数: 0
An Explainable Multichannel Model for COVID-19 Time Series Prediction 新冠肺炎时间序列预测的可解释多通道模型
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-07-27 DOI: 10.2174/1574893618666230727160507
Hongjiang He, Jiang Xie, Xinwei Lu, Dingkai Huang, Wenjun Zhang
The COVID-19 pandemic has affected every country and changed people's lives. Accurate prediction of COVID-19 trends can help prevent the further spread of the outbreak. However, the changing environment affects the COVID-19 prediction performance, and previous models are limited in practical applications.An explainable multichannel deep learning model with spatial, temporal and environmental channels for time series prediction, STE-COVIDNet, was proposed. The time series data of COVID-19 infection, weather, in-state population mobility, and vaccination were collected from May, 2020, to October, 2021, in the USA. In the environmental channel of STE-COVIDNet, an attention mechanism was applied to extract significant environmental factors related to the spread of COVID-19. In addition, the attention weights of these factors were analyzed with the actual situation.STE-COVIDNet was found to be superior to other advanced prediction models of COVID-19 infection cases. The analysis results of attention weight were reported to be consistent with existing studies and reports. It was found that the same environmental factors that influence the spread of COVID-19 can vary across time and region, which explains why findings of previous studies on the relationship between the environment and COVID-19 vary by region and time.STE-COVIDNet is an explainable model that can adapt to environmental changes and thus improve predictive performance.
新冠肺炎疫情影响到每个国家,改变了人们的生活。准确预测COVID-19趋势有助于防止疫情进一步蔓延。然而,环境的变化会影响COVID-19的预测性能,并且先前的模型在实际应用中受到限制。提出了一种具有空间、时间和环境通道的可解释多通道深度学习模型STE-COVIDNet。收集2020年5月至2021年10月美国COVID-19感染、天气、州内人口流动和疫苗接种的时间序列数据。在ste - covid - net环境通道中,应用关注机制提取与COVID-19传播相关的显著环境因素。并结合实际情况对各因素的关注权重进行了分析。STE-COVIDNet模型优于其他先进的COVID-19感染病例预测模型。注意权重的分析结果与已有的研究报告一致。研究发现,影响新冠病毒传播的相同环境因素可能在不同的时间和地区有所不同,这也解释了为什么以往关于环境与新冠病毒之间关系的研究结果在不同的地区和时间有所不同。ste - covid - net是一个可解释的模型,可以适应环境变化,从而提高预测性能。
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引用次数: 0
Computational methods for functional characterization of lncRNAs in human diseases: A focus on co-expression networks 人类疾病中lncRNA功能表征的计算方法:聚焦共表达网络
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-07-27 DOI: 10.2174/1574893618666230727103257
M. Aikawa, P. Jha, Miguel Barbeiro, A. Lupieri, E. Aikawa, S. Uchida
Treatment of many human diseases involves small-molecule drugs.Some target proteins,however, are not druggable with traditional strategies. Innovative RNA-targeted therapeutics may overcome such a challenge. Long noncoding RNAs (lncRNAs) are transcribed RNAs that do not translateinto proteins. Their ability to interact with DNA, RNA, microRNAs (miRNAs), and proteins makesthem an interesting target for regulating gene expression and signaling pathways.In the past decade, acatalog of lncRNAs has been studied in several human diseases. One of the challenges with lncRNAstudies include their lack of coding potential, making, it difficult to characterize them in wet-lab experiments functionally. Several computational tools have thus been designed to characterize functions oflncRNAs centered aroundlncRNA interaction with proteins and RNA, especially miRNAs. This reviewcomprehensively summarizes the methods and tools for lncRNA-RNA interactions and lncRNA-proteininteraction prediction.We discuss the tools related to lncRNA interaction prediction using commonlyused models: ensemble-based, machine-learning-based, molecular-docking and network-based computational models. In biology, two or more genes co-expressed tend to have similar functions. Coexpression network analysis is, therefore, one of the most widely-used methods for understanding thefunction of lncRNAs. A major focus of our study is to compile literature related to the functional prediction of lncRNAs in human diseases using co-expression network analysis. In summary, this article provides relevant information on the use of appropriate computational tools for the functional characterization of lncRNAs that help wet-lab researchers design mechanistic and functional experiments.
许多人类疾病的治疗涉及小分子药物。然而,一些靶蛋白不能用传统的药物治疗策略来治疗。创新的rna靶向疗法可能会克服这一挑战。长链非编码rna (lncrna)是转录的rna,不能翻译成蛋白质。它们与DNA、RNA、microrna (mirna)和蛋白质相互作用的能力使它们成为调控基因表达和信号通路的有趣靶点。在过去的十年中,lncrna的目录在几种人类疾病中得到了研究。lncrna研究面临的挑战之一是它们缺乏编码潜力,这使得很难在湿实验室实验中对它们进行功能表征。因此,已经设计了一些计算工具来描述以lncrna与蛋白质和RNA,特别是mirna相互作用为中心的lncrna的功能。本文综述了lncRNA-RNA相互作用和lncrna -蛋白相互作用预测的方法和工具。我们讨论了与lncRNA相互作用预测相关的工具,使用常用的模型:基于集成的、基于机器学习的、分子对接的和基于网络的计算模型。在生物学中,两个或两个以上共同表达的基因往往具有相似的功能。因此,共表达网络分析是了解lncrna功能的最广泛使用的方法之一。我们的主要研究重点是利用共表达网络分析整理lncrna在人类疾病中的功能预测相关文献。总之,本文提供了使用适当的计算工具进行lncrna功能表征的相关信息,帮助湿实验室研究人员设计机制和功能实验。
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引用次数: 0
Bioinformatic Resources for Plant Genomic Research 植物基因组研究的生物信息学资源
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-07-25 DOI: 10.2174/1574893618666230725123211
N. Sreekumar, Suvanish Kumar Valsala Sudarsanan
Genome assembly and annotation are crucial steps in plant genomics research as they provide valuable insights into plant genetic makeup, gene regulation, evolutionary history, and biological processes. In the emergence of high-throughput sequencing technologies, a plethora of genome assembly tools have been developed to meet the diverse needs of plant genome researchers. Choosing the most suitable tool to suit a specific research need can be daunting due to the complex and varied nature of plant genomes and reads from the sequencers. To assist informed decision-making in selecting the appropriate genome assembly and annotation tool(s), this review offers an extensive overview of the most widely used genome and transcriptome assembly tools. The review covers the specific information on each tool in tabular data, and the data types it can process. In addition, the review delves into transcriptome assembly tools, plant resource databases, and repositories (12 for Arabidopsis, 9 for Rice, 5 for Tomato, and 8 general use resources), which are vital for gene expression profiling and functional annotation and ontology tools that facilitate data integration and analysis.
基因组组装和注释是植物基因组学研究的关键步骤,因为它们为植物基因构成、基因调控、进化史和生物过程提供了有价值的见解。随着高通量测序技术的出现,已经开发了大量的基因组组装工具来满足植物基因组研究人员的各种需求。由于植物基因组和测序仪读数的复杂性和多样性,选择最适合特定研究需求的工具可能会令人望而却步。为了帮助知情决策选择合适的基因组组装和注释工具,本综述对最广泛使用的基因组和转录组组装工具进行了广泛概述。审查涵盖了表格数据中每个工具的具体信息,以及它可以处理的数据类型。此外,该综述深入研究了转录组组装工具、植物资源数据库和存储库(12个用于拟南芥,9个用于水稻,5个用于番茄,8个用于通用资源),这些对于促进数据集成和分析的基因表达谱、功能注释和本体论工具至关重要。
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引用次数: 0
Novel Gene Signatures for Prostate Cancer Detection: Network Centrality-based Screening with Experimental Validation 前列腺癌检测的新基因特征:基于网络中心性的筛选与实验验证
IF 4 3区 生物学 Q1 Mathematics Pub Date : 2023-07-13 DOI: 10.2174/1574893618666230713155145
Jianquan Hou, Yuxin Lin, Anguo Zhao, Xuefeng Zhang, Guang Hu, Xue-dong Wei, Yuhua Huang
Prostate cancer (PCa) is a kind of malignant tumor with high incidence among males worldwide. The identification of novel biomarker signatures is, therefore of clinical significance for PCa precision medicine. It has been acknowledged that the breaking of stability and vulnerability in biological network provides important clues for cancer biomarker discovery.In this study, a bioinformatics model by characterizing the centrality of nodes in PCa-specific protein-protein interaction (PPI) network was proposed and applied to identify novel gene signatures for PCa detection. Compared with traditional methods, this model integrated degree, closeness and betweenness centrality as the criterion for Hub gene prioritization. The identified biomarkers were validated based on receiver-operating characteristic evaluation, qRT-PCR experimental analysis and literature-guided functional survey.Four genes, i.e., MYOF, RBFOX3, OCLN, and CDKN1C, were screened with average AUC ranging from 0.79 to 0.87 in the predicted and validated datasets for PCa diagnosis. Among them, MYOF, RBFOX3, and CDKN1C were observed to be down-regulated whereas OCLN was over-expressed in PCa groups. The in vitro qRT-PCR experiment using cell line samples convinced the potential of identified genes as novel biomarkers for PCa detection. Biological process and pathway enrichment analysis suggested the underlying role of identified biomarkers in mediating PCa-related genes and pathways including TGF-β, Hippo, MAPK signaling during PCa occurrence and progression.Novel gene signatures were screened as candidate biomarkers for PCa detection based on topological characterization of PCa-specific PPI network. More clinical validation using human samples will be performed in future work.
癌症(PCa)是一种世界范围内男性恶性肿瘤,发病率较高。因此,识别新的生物标志物特征对前列腺癌精准医学具有临床意义。人们已经认识到,生物网络稳定性和脆弱性的打破为癌症生物标志物的发现提供了重要线索。在本研究中,通过表征PCa特异性蛋白质-蛋白质相互作用(PPI)网络中节点的中心性,提出了一个生物信息学模型,并将其应用于识别PCa检测的新基因特征。与传统方法相比,该模型综合了程度、贴近度和介数中心性作为Hub基因优先的标准。基于受试者操作特征评估、qRT-PCR实验分析和文献引导的功能调查,对已鉴定的生物标志物进行了验证。在预测和验证的PCa诊断数据集中,筛选了四个基因,即MYOF、RBFOX3、OCLN和CDKN1C,平均AUC范围为0.79至0.87。其中,MYOF、RBFOX3和CDKN1C被观察到下调,而OCLN在PCa组中过度表达。使用细胞系样本的体外qRT-PCR实验证实了已鉴定基因作为PCa检测新生物标志物的潜力。生物学过程和通路富集分析表明,已鉴定的生物标志物在PCa发生和发展过程中介导PCa相关基因和通路(包括TGF-β、Hippo、MAPK信号传导)的潜在作用。基于PCa特异性PPI网络的拓扑特征,筛选新的基因特征作为PCa检测的候选生物标志物。在未来的工作中,将使用人体样本进行更多的临床验证。
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Current Bioinformatics
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