使用综合基因组浏览器进行变异审查。
Variant Review with the Integrative Genomics Viewer.
作者信息
Robinson James T, Thorvaldsdóttir Helga, Wenger Aaron M, Zehir Ahmet, Mesirov Jill P
机构信息
School of Medicine, University of California San Diego, La Jolla, California.
Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
出版信息
Cancer Res. 2017 Nov 1;77(21):e31-e34. doi: 10.1158/0008-5472.CAN-17-0337.
Abstract
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 and structural variants, with examples from both cancer and germline datasets. IGV is freely available at https://www.igv.org .
摘要
人工检查比对后的 reads 以确认和解释变异调用是许多用于下一代测序（NGS）数据的变异调用流程中的重要步骤。目视检查可以大大提高对调用的信心，降低假阳性风险，并有助于表征复杂事件。整合基因组浏览器（IGV）是最早提供 NGS 数据可视化的工具之一，目前它提供了丰富的工具集，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，我们简要概述 IGV 针对单核苷酸变异和结构变异的变异检查功能，并给出癌症和种系数据集的示例。IGV 可在 https://www.igv.org 免费获取。
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