Variant review with the integrative genomics viewer Journal Article
| Authors: | Robinson, J. T.; Thorvaldsdóttir, H.; Wenger, A. M.; Zehir, A.; Mesirov, J. P. |
| Article Title: | 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 American Association for Cancer Research. |
| Keywords: | single nucleotide polymorphism; genetics; polymorphism, single nucleotide; review; genetic analysis; neoplasm; neoplasms; biology; computational biology; genetic variability; genetic variation; cancer genetics; sequence alignment; genomics; dna sequence; software; sequence analysis, dna; procedures; next generation sequencing; high throughput sequencing; high-throughput nucleotide sequencing; humans; integrative genomics viewer; human; priority journal |
| Journal Title: | Cancer Research |
| Volume: | 77 |
| Issue: | 21 |
| ISSN: | 0008-5472 |
| Publisher: | American Association for Cancer Research |
| Date Published: | 2017-11-01 |
| Start Page: | e31 |
| End Page: | e34 |
| Language: | English |
| DOI: | 10.1158/0008-5472.can-17-0337 |
| PUBMED: | 29092934 |
| PROVIDER: | scopus |
| PMCID: | PMC5678989 |
| DOI/URL: | |
| Notes: | Review -- Export Date: 2 January 2018 -- Source: Scopus |
