Literature DB >> 29092934

Variant Review with the Integrative Genomics Viewer.

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.

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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


  12 in total

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5.  Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration.

Authors:  Helga Thorvaldsdóttir; James T Robinson; Jill P Mesirov
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Journal:  Nat Commun       Date:  2014-04-29       Impact factor: 14.919

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Journal:  Cancer Biol Med       Date:  2016-03       Impact factor: 4.248

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10.  Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.

Authors:  Saud H AlDubayan; Jake R Conway; Sabrina Y Camp; Leora Witkowski; Eric Kofman; Brendan Reardon; Seunghun Han; Nicholas Moore; Haitham Elmarakeby; Keyan Salari; Hani Choudhry; Abdullah M Al-Rubaish; Abdulsalam A Al-Sulaiman; Amein K Al-Ali; Amaro Taylor-Weiner; Eliezer M Van Allen
Journal:  JAMA       Date:  2020-11-17       Impact factor: 56.272

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