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VegaMC: a R/bioconductor package for fast downstream analysis of large array comparative genomic hybridization datasets

机译:VegaMC:R /生物导体包装,用于大型阵列比较基因组杂交数据集的快速下游分析

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摘要

Identification of genetic alterations of tumor cells has become a common method to detect the genes involved in development and progression of cancer. In order to detect driver genes, several samples need to be simultaneously analyzed. The Cancer Genome Atlas (TCGA) project provides access to a large amount of data for several cancer types. TGCA is an invaluable source of information, but analysis of this huge dataset possess important computational problems in terms of memory and execution times. Here, we present a R/package, called VegaMC (Vega multi-channel), that enables fast and efficient detection of significant recurrent copy number alterations in very large datasets. VegaMC is integrated with the output of the common tools that convert allele signal intensities in log R ratio and B allele frequency. It also enables the detection of loss of heterozigosity and provides in output two web pages allowing a rapid and easy navigation of the aberrant genes. Synthetic data and real datasets are used for quantitative and qualitative evaluation purposes. In particular, we demonstrate the ability of VegaMC on two large TGCA datasets: colon adenocarcinoma and glioblastoma multiforme. For both the datasets, we provide the list of aberrant genes which contain previously validated genes and can be used as basis for further investigations.
机译:鉴定肿瘤细胞的遗传改变已成为检测与癌症发生和发展有关的基因的常用方法。为了检测驱动基因,需要同时分析几个样品。癌症基因组图谱(TCGA)项目提供了对多种癌症类型的大量数据的访问。 TGCA是宝贵的信息来源,但是对这个庞大的数据集的分析在内存和执行时间方面具有重要的计算问题。在这里,我们介绍了一个称为VegaMC(Vega多通道)的R /程序包,它可以快速有效地检测非常大的数据集中重要的重复拷贝数变化。 VegaMC与常用工具的输出集成,该工具可将等位基因信号强度转换为对数R比和B等位基因频率。它还可以检测杂合性的丢失,并在输出中提供两个网页,从而可以快速轻松地导航异常基因。综合数据和真实数据集用于定量和定性评估。特别是,我们证明了VegaMC在两个大型TGCA数据集上的能力:结肠腺癌和多形性胶质母细胞瘤。对于这两个数据集,我们都提供了包含先前已验证基因的异常基因列表,可以用作进一步研究的基础。

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