Variant Review with the Integrative Genomics Viewer.
Variant Review with the Integrative Genomics Viewer.
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DOI：
10.1158/0008-5472.can-17-0337
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发表时间：
2017-11-01
期刊：
影响因子：
11.2
通讯作者：
Mesirov JP
中科院分区：
文献类型：
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作者：
Robinson JT;Thorvaldsdóttir H;Wenger AM;Zehir A;Mesirov JP
在许多用于下一代测序(NGS)数据的变体调用管道中，手动审查比对读数以确认和解释变体调用是重要的一步。目视检查可以极大地提高通话的信心，降低误报的风险，并有助于确定复杂事件的特征。一体化基因组学查看器(IGV)是最早提供NGS数据可视化的工具之一，目前它提供了一套丰富的工具，用于检查、验证和解释NGS数据集以及其他类型的基因组数据。在这里，我们以癌症和生殖系数据集为例，简要概述了IGV对单核苷酸变异(SNV)和结构变异(SV)的变异审查功能。IGV可在https://www.igv.org.上免费获得
Manual review of aligned reads for confirmation and interpretation of variant calls is an important step in many variant calling pipelines for next-generation sequencing (NGS) data. Visual inspection can greatly increase the confidence in calls, reduce the risk of false positives, and help characterize complex events. The Integrative Genomics Viewer (IGV) was one of the first tools to provide NGS data visualization, and it currently provides a rich set of tools for inspection, validation, and interpretation of NGS datasets, as well as other types of genomic data. Here we present a short overview of IGV’s variant review features for both single nucleotide variants (SNV) and structural variants (SV), with examples from both cancer and germline datasets. IGV is freely available at https://www.igv.org.