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断点勘探者:一种用于结构变异可视化的管道。

BreakPoint Surveyor: a pipeline for structural variant visualization.

机构信息

Oncology Division, Department of Medicine.

McDonnell Genome Institute.

出版信息

Bioinformatics. 2017 Oct 1;33(19):3121-3122. doi: 10.1093/bioinformatics/btx362.

Abstract

SUMMARY

BreakPoint Surveyor (BPS) is a computational pipeline for the discovery, characterization, and visualization of complex genomic rearrangements, such as viral genome integration, in paired-end sequence data. BPS facilitates interpretation of structural variants by merging structural variant breakpoint predictions, gene exon structure, read depth, and RNA-sequencing expression into a single comprehensive figure.

AVAILABILITY AND IMPLEMENTATION

Source code and sample data freely available for download at https://github.com/ding-lab/BreakPointSurveyor, distributed under the GNU GPLv3 license, implemented in R, Python and BASH scripts, and supported on Unix/Linux/OS X operating systems.

CONTACT

lding@wustl.edu.

SUPPLEMENTARY INFORMATION

Supplementary data are available at Bioinformatics online.

摘要

摘要

断点调查员(BPS)是一个用于在配对末端序列数据中发现、描述和可视化复杂基因组重排(如病毒基因组整合)的计算管道。BPS 通过将结构变异断点预测、基因外显子结构、读深度和 RNA 测序表达合并到单个综合图中,有助于解释结构变异。

可用性和实现

源代码和示例数据可在 https://github.com/ding-lab/BreakPointSurveyor 上免费下载,根据 GNU GPLv3 许可证分发,用 R、Python 和 BASH 脚本实现,可在 Unix/Linux/OS X 操作系统上运行。

联系人

lding@wustl.edu

补充信息

补充数据可在生物信息学在线获得。

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1
Structural variation detection using next-generation sequencing data: A comparative technical review.
Methods. 2016 Jun 1;102:36-49. doi: 10.1016/j.ymeth.2016.01.020. Epub 2016 Feb 1.
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Human tumor-associated viruses and new insights into the molecular mechanisms of cancer.
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