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Variant Review with the Integrative Genomics Viewer.

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 Cancer Res; 77(21); e31-34. ©2017 AACR.

SUBMITTER: Robinson JT

PROVIDER: S-EPMC5678989 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Variant Review with the Integrative Genomics Viewer.

Robinson James T JT Thorvaldsdóttir Helga H Wenger Aaron M AM Zehir Ahmet A Mesirov Jill P JP

Cancer research 20171101 21

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 in ...[more]

PMID: 29092934

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