PeerJ (Apr 2020)

intansv: an R package for integrative analysis of structural variations

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

DOI
https://doi.org/10.7717/peerj.8867
Journal volume & issue
Vol. 8
p. e8867

Abstract

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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.

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