Variant Review with the Integrative Genomics Viewer

被引：718
作者：
Robinson, James T. [1 ]
Thorvaldsdottir, Helga [2 ]
Wenger, Aaron M. [3 ]
Zehir, Ahmet [4 ]
Mesirov, Jill P. [1 ,2 ,5 ]
机构：
[1] Univ Calif San Diego, Sch Med, La Jolla, CA 92093 USA
[2] Broad Inst MIT & Harvard, Cambridge, MA USA
[3] Pacific Biosci, Menlo Pk, CA USA
[4] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA
[5] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 USA
来源：
CANCER RESEARCH | 2017年 / 77卷 / 21期
关键词：
D O I：
10.1158/0008-5472.CAN-17-0337
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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. (C)2017 AACR.
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收藏
页码：E31 / E34
页数：4
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