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Cutevariant:一个基于图形用户界面的独立桌面应用程序,用于从注释的VCF文件中探索基因变异。

Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.

作者信息

Schutz Sacha, Monod-Broca Charles, Bourneuf Lucas, Marijon Pierre, Montier Tristan

机构信息

Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest 29200, France.

CHRU Brest, Brest 29200, France.

出版信息

Bioinform Adv. 2021 Nov 25;2(1):vbab028. doi: 10.1093/bioadv/vbab028. eCollection 2022.

Abstract

SUMMARY

Cutevariant is a graphical user interface (GUI)-based desktop application designed to filter variations from annotated VCF file. The application imports data into a local SQLite database where complex filter queries can be built either from GUI controllers or using a domain-specific language called Variant Query Language. Cutevariant provides more features than existing applications and is fully customizable thanks to a complete plugins architecture.

AVAILABILITY AND IMPLEMENTATION

Cutevariant is distributed as a multiplatform client-side software under an open source license and is available at https://github.com/labsquare/cutevariant.

摘要

摘要

Cutevariant是一个基于图形用户界面(GUI)的桌面应用程序,旨在从注释的VCF文件中筛选变异。该应用程序将数据导入本地SQLite数据库,在其中可以通过GUI控制器或使用一种称为变异查询语言的特定领域语言构建复杂的筛选查询。Cutevariant提供了比现有应用程序更多的功能,并且由于其完整的插件架构而完全可定制。

可用性和实现

Cutevariant作为一个多平台客户端软件,根据开源许可证进行分发,可在https://github.com/labsquare/cutevariant上获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/458c/9710699/2ff3b290680a/vbab028f1.jpg

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