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intansv: an R package for integrative analysis of structural variations
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PeerJ Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194084/ https://www.ncbi.nlm.nih.gov/pubmed/32377445 http://dx.doi.org/10.7717/peerj.8867 |
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author | Jia, Lihua Liu, Na Huang, Fangfang Zhou, Zhengfu He, Xin Li, Haoran Wang, Zhizhan Yao, Wen |
author_facet | Jia, Lihua Liu, Na Huang, Fangfang Zhou, Zhengfu He, Xin Li, Haoran Wang, Zhizhan Yao, Wen |
author_sort | Jia, Lihua |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7194084 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | PeerJ Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-71940842020-05-06 intansv: an R package for integrative analysis of structural variations Jia, Lihua Liu, Na Huang, Fangfang Zhou, Zhengfu He, Xin Li, Haoran Wang, Zhizhan Yao, Wen PeerJ Bioinformatics 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. PeerJ Inc. 2020-04-28 /pmc/articles/PMC7194084/ /pubmed/32377445 http://dx.doi.org/10.7717/peerj.8867 Text en ©2020 Jia et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. |
spellingShingle | Bioinformatics Jia, Lihua Liu, Na Huang, Fangfang Zhou, Zhengfu He, Xin Li, Haoran Wang, Zhizhan Yao, Wen intansv: an R package for integrative analysis of structural variations |
title | intansv: an R package for integrative analysis of structural variations |
title_full | intansv: an R package for integrative analysis of structural variations |
title_fullStr | intansv: an R package for integrative analysis of structural variations |
title_full_unstemmed | intansv: an R package for integrative analysis of structural variations |
title_short | intansv: an R package for integrative analysis of structural variations |
title_sort | intansv: an r package for integrative analysis of structural variations |
topic | Bioinformatics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194084/ https://www.ncbi.nlm.nih.gov/pubmed/32377445 http://dx.doi.org/10.7717/peerj.8867 |
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