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GenPlay多基因组,一款用于在图形界面中比较和分析多个人类基因组的工具。

GenPlay Multi-Genome, a tool to compare and analyze multiple human genomes in a graphical interface.

作者信息

Lajugie Julien, Fourel Nicolas, Bouhassira Eric E

机构信息

Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, USA.

出版信息

Bioinformatics. 2015 Jan 1;31(1):109-11. doi: 10.1093/bioinformatics/btu588. Epub 2014 Aug 31.

Abstract

SUMMARY

Parallel visualization of multiple individual human genomes is a complex endeavor that is rapidly gaining importance with the increasing number of personal, phased and cancer genomes that are being generated. It requires the display of variants such as SNPs, indels and structural variants that are unique to specific genomes and the introduction of multiple overlapping gaps in the reference sequence. Here, we describe GenPlay Multi-Genome, an application specifically written to visualize and analyze multiple human genomes in parallel. GenPlay Multi-Genome is ideally suited for the comparison of allele-specific expression and functional genomic data obtained from multiple phased genomes in a graphical interface with access to multiple-track operation. It also allows the analysis of data that have been aligned to custom genomes rather than to a standard reference and can be used as a variant calling format file browser and as a tool to compare different genome assembly, such as hg19 and hg38.

AVAILABILITY AND IMPLEMENTATION

GenPlay is available under the GNU public license (GPL-3) from http://genplay.einstein.yu.edu. The source code is available at https://github.com/JulienLajugie/GenPlay.

摘要

摘要

随着个人基因组、分型基因组和癌症基因组数量的不断增加,对多个个体人类基因组进行并行可视化是一项复杂且日益重要的工作。它需要展示特定基因组特有的单核苷酸多态性(SNP)、插入缺失(indel)和结构变异等变体,并在参考序列中引入多个重叠缺口。在此,我们描述了GenPlay多基因组,这是一个专门编写用于并行可视化和分析多个人类基因组的应用程序。GenPlay多基因组非常适合在具有多轨道操作功能的图形界面中比较从多个分型基因组获得的等位基因特异性表达和功能基因组数据。它还允许分析已与自定义基因组而非标准参考基因组比对的数据,并且可以用作变异调用格式文件浏览器以及比较不同基因组组装(如hg19和hg38)的工具。

可用性与实现方式

GenPlay可在GNU通用公共许可证(GPL - 3)下从http://genplay.einstein.yu.edu获取。源代码可在https://github.com/JulienLajugie/GenPlay获取。

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