Jia Lihua, Liu Na, Huang Fangfang, Zhou Zhengfu, He Xin, Li Haoran, Wang Zhizhan, Yao Wen
National Key Laboratory of Wheat and Maize Crop Science, College of Life Sciences, Henan Agricultural University, Zhengzhou, Henan, China.
National Key Laboratory of Wheat and Maize Crop Science, College of Agronomy, Henan Agricultural University, Zhengzhou, Henan, China.
PeerJ. 2020 Apr 28;8:e8867. doi: 10.7717/peerj.8867. eCollection 2020.
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/intansv.html.
识别个体之间的结构变异对于理解表型变异和疾病非常重要。尽管存在数十种用于预测结构变异的程序，但在该领域中没有一个是金标准，通常会整合多个程序的结果以获得更可靠的预测。结构变异的注释和可视化对于理解其功能很重要。然而，就我们所知，目前没有程序提供这些功能。我们报告了一个R包intansv，它可以整合多个程序的预测结果，并对结构变异进行注释和可视化。intansv的源代码和帮助手册可在https://github.com/venyao/intansv和http://www.bioconductor.org/packages/devel/bioc/html/intansv.html上免费获取。
