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Intansv: an R package for integrative analysis of structural variations.

ABSTRACT: 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.

SUBMITTER: Jia L

PROVIDER: S-EPMC7194084 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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intansv: an R package for integrative analysis of structural variations.

Jia Lihua L Liu Na N Huang Fangfang F Zhou Zhengfu Z He Xin X Li Haoran H Wang Zhizhan Z Yao Wen W

PeerJ 20200428

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 pr ...[more]

PMID: 32377445

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