July 7, 2019  |  

Variant review with the Integrative Genomics Viewer.

Authors: Robinson, James T and Thorvaldsdóttir, Helga and Wenger, Aaron M and Zehir, Ahmet and Mesirov, Jill P

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 Cancer Res; 77(21); e31-34. ©2017 AACR.©2017 American Association for Cancer Research.

Journal: Cancer research
DOI: 10.1158/0008-5472.CAN-17-0337
Year: 2017

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