intansv: an R package for integrative analysis of structural variations

文献类型： 外文期刊

第一作者： Jia, Lihua

作者： Jia, Lihua;Liu, Na;Huang, Fangfang;Zhou, Zhengfu;Li, Haoran;Wang, Zhizhan;Yao, Wen;Jia, Lihua;He, Xin;Yao, Wen

作者机构：

关键词： Structural variation; Integrative analysis; R package; Next-generation sequencing; Visualization; Genome variation

期刊名称：PEERJ （ 影响因子：2.984； 五年影响因子：3.369 ）

ISSN： 2167-8359

年卷期： 2020 年 8 卷

页码：

收录情况： SCI

摘要： Identification of structural variations between individuals is very important for the understanding of phenotype variations and diseases. Despite the existence of dozens of programs for prediction of structural variations, none of them is the golden standard in this field and the results of multiple programs were usually integrated to get more reliable predictions. Annotation and visualization of structural variations are important for the understanding of their functions. However, no program provides these functions currently as far as we are concerned. We report an R package, intansv, which can integrate the predictions of multiple programs as well as annotate and visualize structural variations. The source code and the help manual of intansv is freely available at https://github.com/venyao/intansv and http://www.bioconductor. org/packages/devel/bioc/html/Mtansv.html.

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