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Tools, resources and databases for SNPs and indels in sequences: a review. 序列中snp和索引的工具、资源和数据库综述。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.060762
Abhik Seal, Arun Gupta, M Mahalaxmi, Riju Aykkal, Tiratha Raj Singh, Vadivel Arunachalam

Single Nucleotide Polymorphism (SNP) is a mutation where, a single base in the DNA differs from the usual base at that position. SNPs are the marker of choice in genetic analysis and also useful in locating genes associated with diseases. SNPs are important and frequently occurring point mutations in genomes and have many practical implications. In silico methods are easy to study the SNPs that are occurring in known genomes or sequences of a species of interest during the post genomic era. There are many on-line and stand alone tools to analyse the SNPs. We intend to guide the reader with the software details such as algorithmic background, file requirements, operating system specificity and species specificity, if any, for the tools of SNPs detection in plants and animals. We also list many databases and resources available today to describe SNPs in wide range of organisms.

单核苷酸多态性(SNP)是一种突变,其中DNA中的单个碱基与该位置的通常碱基不同。snp是遗传分析的首选标记,在定位与疾病相关的基因方面也很有用。snp是基因组中重要且经常发生的点突变,具有许多实际意义。在后基因组时代,计算机方法很容易研究在已知基因组或感兴趣的物种序列中发生的snp。有许多在线和独立的工具来分析snp。我们打算用算法背景、文件要求、操作系统特异性和物种特异性(如果有的话)等软件细节来指导读者使用植物和动物的snp检测工具。我们还列出了许多可用的数据库和资源,以描述广泛生物体中的snp。
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引用次数: 16
A joint framework for missing values estimation and biclusters detection in gene expression data. 基因表达数据缺失值估计和双聚类检测的联合框架。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.065243
Kin-On Cheng, Ngai-Fong Law, Yui-Lam Chan, Wan-Chi Siu

DNA microarray experiment unavoidably generates gene expression data with missing values. This hardens subsequent analysis such as biclusters detection which aims to find a set of co-expressed genes under some experimental conditions. Missing values are thus required to be estimated before biclusters detection. Existing missing values estimation algorithms rely on finding coherence among expression values throughout the data. In view that both missing values estimation and biclusters detection aim at exploiting coherence inside the expression data, we propose to integrate these two steps into a joint framework. The benefits are twofold; the missing values estimation can improve biclusters analysis and the coherence in detected biclusters can be exploited for accurate missing values estimation. Experimental results show that the bicluster information can significantly improve the accuracy in missing values estimation. Also, the joint framework enables the detection of biologically meaningful biclusters.

DNA微阵列实验不可避免地会产生缺失值的基因表达数据。这加强了后续分析,如双聚类检测,其目的是在某些实验条件下找到一组共表达基因。因此需要在双聚类检测之前估计缺失值。现有的缺失值估计算法依赖于寻找整个数据中表达值之间的一致性。鉴于缺失值估计和双聚类检测都旨在利用表达数据内部的一致性,我们建议将这两个步骤整合到一个联合框架中。好处是双重的;缺失值估计可以改善双聚类分析,并且可以利用检测到的双聚类的相干性进行准确的缺失值估计。实验结果表明,双聚类信息可以显著提高缺失值估计的准确性。此外,联合框架能够检测生物学上有意义的双聚类。
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引用次数: 2
Drawing inferences from clinical studies with missing values using genetic algorithm. 利用遗传算法从缺失值的临床研究中进行推断。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.065245
R Devi Priya, S Kuppuswami

Missing data problem degrades the statistical power of any analysis made in clinical studies. To infer valid results from such studies, suitable method is required to replace the missing values. There is no method which can be universally applicable for handling missing values and the main objective of this paper is to introduce a common method applicable in all cases of missing data. In this paper, Bayesian Genetic Algorithm (BGA) is proposed to effectively impute both missing continuous and discrete values using heuristic search algorithm called genetic algorithm and Bayesian rule. BGA is applied to impute missing values in a real cancer dataset under Missing At Random (MAR) and Missing Completely At Random (MCAR) conditions. For both discrete and continuous attributes, the results show better classification accuracy and RMSE% than many existing methods.

缺失数据问题降低了临床研究中任何分析的统计能力。为了从这些研究中推断出有效的结果,需要合适的方法来替换缺失的值。没有一种方法可以普遍适用于处理缺失值,本文的主要目的是介绍一种适用于所有缺失数据情况的通用方法。本文提出了一种基于遗传算法和贝叶斯规则的启发式搜索算法——贝叶斯遗传算法(BGA)来有效地对缺失的连续值和离散值进行归算。将BGA应用于随机缺失(missing At Random, MAR)和完全随机缺失(missing完全At Random, MCAR)条件下真实癌症数据集的缺失值估算。对于离散和连续属性,结果表明分类精度和RMSE%都优于现有的许多方法。
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引用次数: 13
Integrating edge detection and fuzzy connectedness for automated segmentation of anatomical branching structures. 结合边缘检测和模糊连通性的解剖分支结构自动分割。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.058780
Angeliki Skoura, Tatyana Nuzhnaya, Vasileios Megalooikonomou

Image segmentation algorithms are critical components of medical image analysis systems. This paper presents a novel and fully automated methodology for segmenting anatomical branching structures in medical images. It is a hybrid approach which integrates the Canny edge detection to obtain a preliminary boundary of the structure and the fuzzy connectedness algorithm to handle efficiently the discontinuities of the returned edge map. To ensure efficient localisation of weak branches, the fuzzy connectedness framework is applied in a sliding window mode and using a voting scheme the optimal connection point is estimated. Finally, the image regions are labelled as tissue or background using a locally adaptive thresholding technique. The proposed methodology is applied and evaluated in segmenting ductal trees visualised in clinical X-ray galactograms and vasculature visualised in angiograms. The experimental results demonstrate the effectiveness of the proposed approach achieving high scores of detection rate and accuracy among state-of-the-art segmentation techniques.

图像分割算法是医学图像分析系统的关键组成部分。本文提出了一种新的、全自动的方法来分割医学图像中的解剖分支结构。该方法将Canny边缘检测方法与模糊连通性算法相结合,得到结构的初步边界,并有效处理返回边缘图的不连续问题。为了保证弱分支的有效定位,将模糊连通性框架应用于滑动窗口模式,并使用投票方案估计最优连接点。最后,使用局部自适应阈值技术将图像区域标记为组织或背景。所提出的方法被应用于分割在临床x线半乳造影中显示的导管树和在血管造影中显示的血管。实验结果表明,该方法在现有分割技术中具有较高的检测率和准确率。
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引用次数: 3
A linearly convergent first-order algorithm for total variation minimisation in image processing. 图像处理中总变差最小化的一阶线性收敛算法。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.058775
Cong D Dang, Kaiyu Dai, Guanghui Lan

We introduce a new formulation for total variation minimisation in image denoising. We also present a linearly convergent first-order method for solving this reformulated problem and show that it possesses a nearly dimension-independent iteration complexity bound.

介绍了一种新的图像去噪中总变差最小化的公式。我们还给出了一个线性收敛的一阶方法来求解这个重表述问题,并证明了它具有一个几乎与维无关的迭代复杂度界。
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引用次数: 2
Fast decision tree-based method to index large DNA-protein sequence databases using hybrid distributed-shared memory programming model. 基于混合分布式共享内存编程模型的快速决策树的大型dna -蛋白质序列数据库索引方法。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.060765
Khalid Mohammad Jaber, Rosni Abdullah, Nur'Aini Abdul Rashid

In recent times, the size of biological databases has increased significantly, with the continuous growth in the number of users and rate of queries; such that some databases have reached the terabyte size. There is therefore, the increasing need to access databases at the fastest rates possible. In this paper, the decision tree indexing model (PDTIM) was parallelised, using a hybrid of distributed and shared memory on resident database; with horizontal and vertical growth through Message Passing Interface (MPI) and POSIX Thread (PThread), to accelerate the index building time. The PDTIM was implemented using 1, 2, 4 and 5 processors on 1, 2, 3 and 4 threads respectively. The results show that the hybrid technique improved the speedup, compared to a sequential version. It could be concluded from results that the proposed PDTIM is appropriate for large data sets, in terms of index building time.

近年来,随着用户数量和查询率的不断增长,生物数据库的规模显著增加;以至于一些数据库已经达到了tb级的大小。因此,越来越需要以尽可能快的速度访问数据库。本文将决策树索引模型(PDTIM)并行化,在驻留数据库上采用分布式内存和共享内存的混合模式;通过消息传递接口(MPI)和POSIX线程(PThread)实现横向和纵向增长,以加快索引构建时间。PDTIM分别在1、2、3和4个线程上使用1、2、4和5个处理器实现。结果表明,与串行版本相比,混合技术提高了加速。从结果可以得出结论,就索引构建时间而言,所提出的PDTIM适用于大型数据集。
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引用次数: 5
Real-time estimation and detection of non-linearity in bio-signals using wireless brain-computer interface. 基于无线脑机接口的生物信号非线性实时估计与检测。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.059518
S Ganesan, T Aruldoss Albert Victoire, G Vijayalakshmy

In this paper, the work is mainly concentrated on removing non-linear parameters to make the physiological signals more linear and reducing the complexity of the signals. This paper discusses three different types of techniques that can be successfully utilised to remove non-linear parameters in EEG and ECG. (i) Transformation technique using Discrete Walsh-Hadamard Transform (DWHT); (ii) application of fuzzy logic control and (iii) building the Adaptive Neuro-Fuzzy Inference System (ANFIS) model for fuzzy. This work has been inspired by the need to arrive at an efficient, simple, accurate and quicker method for analysis of bio-signal.

本文的工作主要集中在去除非线性参数,使生理信号更加线性化,降低信号的复杂性。本文讨论了三种不同类型的技术,可以成功地用于去除EEG和ECG中的非线性参数。(i)使用离散沃尔什-阿达玛变换的变换技术;(ii)模糊逻辑控制的应用;(iii)建立模糊自适应神经模糊推理系统(ANFIS)模型。这项工作的灵感来自于需要一种高效、简单、准确和快速的生物信号分析方法。
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引用次数: 1
Perpendicular fibre tracking for neural fibre bundle analysis using diffusion MRI. 应用扩散MRI进行神经纤维束分析的垂直纤维跟踪。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.058779
S Ray, W O'Dell, Angelos Barmpoutis

Information on the directionality and structure of axonal fibres in neural tissue can be obtained by analysing diffusion-weighted MRI data sets. Several fibre tracking algorithms have been presented in the literature that trace the underlying field of principal orientations of water diffusion, which correspond to the local primary eigenvectors of the diffusion tensor field. However, the majority of the existing techniques ignore the secondary and tertiary orientations of diffusion, which contain significant information on the local patterns of diffusion. In this paper, we introduce the idea of perpendicular fibre tracking and present a novel dynamic programming method that traces surfaces, which are locally perpendicular to the axonal fibres. This is achieved by using a cost function, with geometric and fibre orientation constraints, that is evaluated dynamically for every voxel in the image domain starting from a given seed point. The proposed method is tested using synthetic and real DW-MRI data sets. The results conclusively demonstrate the accuracy and effectiveness of our method.

通过分析弥散加权MRI数据集,可以获得神经组织中轴突纤维的方向性和结构信息。文献中提出了几种纤维跟踪算法,用于跟踪水扩散主取向的底层场,这些场对应于扩散张量场的局部主特征向量。然而,现有的大多数技术都忽略了二级和三级扩散方向,它们包含了关于局部扩散模式的重要信息。本文引入了垂直纤维跟踪的思想,提出了一种新的动态规划方法来跟踪局部垂直于轴突纤维的曲面。这是通过使用具有几何和纤维方向约束的成本函数来实现的,该函数从给定的种子点开始对图像域中的每个体素进行动态评估。用合成和真实的DW-MRI数据集对该方法进行了测试。结果表明了该方法的准确性和有效性。
{"title":"Perpendicular fibre tracking for neural fibre bundle analysis using diffusion MRI.","authors":"S Ray,&nbsp;W O'Dell,&nbsp;Angelos Barmpoutis","doi":"10.1504/IJBRA.2014.058779","DOIUrl":"https://doi.org/10.1504/IJBRA.2014.058779","url":null,"abstract":"<p><p>Information on the directionality and structure of axonal fibres in neural tissue can be obtained by analysing diffusion-weighted MRI data sets. Several fibre tracking algorithms have been presented in the literature that trace the underlying field of principal orientations of water diffusion, which correspond to the local primary eigenvectors of the diffusion tensor field. However, the majority of the existing techniques ignore the secondary and tertiary orientations of diffusion, which contain significant information on the local patterns of diffusion. In this paper, we introduce the idea of perpendicular fibre tracking and present a novel dynamic programming method that traces surfaces, which are locally perpendicular to the axonal fibres. This is achieved by using a cost function, with geometric and fibre orientation constraints, that is evaluated dynamically for every voxel in the image domain starting from a given seed point. The proposed method is tested using synthetic and real DW-MRI data sets. The results conclusively demonstrate the accuracy and effectiveness of our method. </p>","PeriodicalId":35444,"journal":{"name":"International Journal of Bioinformatics Research and Applications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1504/IJBRA.2014.058779","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32049673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Functional and structural analysis of mice TRPC6 with human analogue through homology modelling. 通过同源性建模分析小鼠TRPC6与人相似物的功能和结构。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.059536
Soumya Chigurupati, Arnima Bhasin, Krishna Kishore Inampudi, Swapna Asuthkar, Bhanupriya Madarampalli, Ramana Kumar Kammili, Kiran Kumar Velpula

Homology models are increasingly used to determine structural and functional relationships of genes and proteins in biomedical research. In the current study, for the first time, we compared the TRPC6 gene in mouse and human. The protein encoded by this gene forms a receptor activated calcium channel in cell membrane. Defects in this gene have been implicated in a wide range of diseases including glioblastomas. To determine the structural similarities in mouse and human TRPC6, we used standard bioinformatics tools such as fold prediction to identify the protein 3D structure, sequence-structure comparison, and prediction of template and protein structure. We also used glioblastoma cell line U373MG and human glioblastoma tumour tissues to study the expression of TRPC6 in disease conditions to implicate this gene in pathological ailment. Based on the results we conclude that human TRPC6 contains 90% identity and 93% similarity with mouse TRPC6, suggesting that this protein is well conserved in these two species. These isoforms likely demonstrate similar mechanisms in regulating gene expression; thus TRPC6 studies in mice may be extrapolated to humans.

在生物医学研究中,同源模型越来越多地用于确定基因和蛋白质的结构和功能关系。在本研究中,我们首次比较了小鼠和人的TRPC6基因。该基因编码的蛋白在细胞膜上形成受体激活的钙通道。该基因的缺陷与包括胶质母细胞瘤在内的多种疾病有关。为了确定小鼠和人类TRPC6的结构相似性,我们使用折叠预测等标准生物信息学工具鉴定蛋白质3D结构,序列-结构比较,模板和蛋白质结构预测。我们还利用胶质母细胞瘤细胞系U373MG和人类胶质母细胞瘤肿瘤组织来研究TRPC6在疾病状态下的表达,以揭示该基因与病理性疾病的关系。结果表明,人类TRPC6与小鼠TRPC6具有90%的同源性和93%的相似性,表明该蛋白在这两个物种中具有良好的保守性。这些同种异构体可能在调节基因表达方面表现出相似的机制;因此,在小鼠中的TRPC6研究可以外推到人类。
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引用次数: 1
Identification of unique repeated patterns, location of mutation in DNA finger printing using artificial intelligence technique. 利用人工智能技术识别独特的重复模式,定位DNA指纹中的突变。
Q4 Health Professions Pub Date : 2014-01-01 DOI: 10.1504/IJBRA.2014.059516
B Mukunthan, N Nagaveni

In genetic engineering, conventional techniques and algorithms employed by forensic scientists to assist in identification of individuals on the basis of their respective DNA profiles involves more complex computational steps and mathematical formulae, also the identification of location of mutation in a genomic sequence in laboratories is still an exigent task. This novel approach provides ability to solve the problems that do not have an algorithmic solution and the available solutions are also too complex to be found. The perfect blend made of bioinformatics and neural networks technique results in efficient DNA pattern analysis algorithm with utmost prediction accuracy.

在基因工程中,法医科学家利用传统的技术和算法,根据各自的DNA图谱来协助识别个体,涉及更复杂的计算步骤和数学公式,而且在实验室中识别基因组序列中的突变位置仍然是一项紧迫的任务。这种新颖的方法提供了解决没有算法解决方案的问题的能力,并且可用的解决方案也太复杂而难以找到。生物信息学和神经网络技术的完美结合,产生了高效的DNA模式分析算法,预测精度最高。
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引用次数: 4
期刊
International Journal of Bioinformatics Research and Applications
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