VariantAnnotation：一个用于探索和注释遗传变异的 Bioconductor 软件包。
VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants.
机构信息
Program in Computational Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, Bioinformatics and Computational Biology, Genentech, South San Francisco, CA 94080, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 and Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
出版信息
Bioinformatics. 2014 Jul 15;30(14):2076-8. doi: 10.1093/bioinformatics/btu168. Epub 2014 Mar 28.
UNLABELLED
VariantAnnotation is an R / Bioconductor package for the exploration and annotation of genetic variants. Capabilities exist for reading, writing and filtering variant call format (VCF) files. VariantAnnotation allows ready access to additional R / Bioconductor facilities for advanced statistical analysis, data transformation, visualization and integration with diverse genomic resources.
AVAILABILITY AND IMPLEMENTATION
This package is implemented in R and available for download at the Bioconductor Web site (http://bioconductor.org/packages/2.13/bioc/html/VariantAnnotation.html). The package contains extensive help pages for individual functions and a 'vignette' outlining typical work flows; it is made available under the open source 'Artistic-2.0' license. Version 1.9.38 was used in this article.
未标记
VariantAnnotation 是一个用于探索和注释遗传变异的 R / Bioconductor 包。它具有读取、写入和过滤变异调用格式 (VCF) 文件的功能。VariantAnnotation 允许轻松访问 R / Bioconductor 的其他功能，以进行高级统计分析、数据转换、可视化以及与各种基因组资源的集成。
可用性和实现
此软件包在 R 中实现，可在 Bioconductor 网站上下载（http://bioconductor.org/packages/2.13/bioc/html/VariantAnnotation.html）。该软件包为各个功能提供了广泛的帮助页面，并概述了典型工作流程的“入门指南”；它是根据开源的“艺术创作 2.0”许可证提供的。本文使用的是 1.9.38 版本。
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