| Literature DB >> 29092934 |
James T Robinson1, Helga Thorvaldsdóttir2, Aaron M Wenger3, Ahmet Zehir4, Jill P Mesirov5,2,6.
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. ©2017 American Association for Cancer Research.Entities:
Mesh:
Year: 2017 PMID: 29092934 PMCID: PMC5678989 DOI: 10.1158/0008-5472.CAN-17-0337
Source DB: PubMed Journal: Cancer Res ISSN: 0008-5472 Impact factor: 12.701