Variant Review with the Integrative Genomics Viewer
James T. Robinson,Helga Thorvaldsdottir,Aaron M. Wenger,Ahmet Zehir,Jill P. Mesirov,Jill P. Mesirov +5 more
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TLDR
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 are presented.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 IGV9s 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.read more
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Integrative Genomics Viewer
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References
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Integrative genomics viewer
James T. Robinson,Helga Thorvaldsdottir,Wendy Winckler,Mitchell Guttman,Eric S. Lander,Eric S. Lander,Gad Getz,Jill P. Mesirov +7 more
TL;DR: In this article, the authors present an approach for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data.
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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
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