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DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data
With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still i...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489280/ https://www.ncbi.nlm.nih.gov/pubmed/26013811 http://dx.doi.org/10.1093/nar/gkv556 |
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author | Zhang, Yuanwei Yu, Zhenhua Ban, Rongjun Zhang, Huan Iqbal, Furhan Zhao, Aiwu Li, Ao Shi, Qinghua |
author_facet | Zhang, Yuanwei Yu, Zhenhua Ban, Rongjun Zhang, Huan Iqbal, Furhan Zhao, Aiwu Li, Ao Shi, Qinghua |
author_sort | Zhang, Yuanwei |
collection | PubMed |
description | With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still in great demand. Here, we present an online tool, DeAnnCNV (Detection and Annotation of Copy Number Variations from WES data), to meet the current demands of WES users. Upon submitting the file generated from WES data by an in-house tool that can be downloaded from our server, DeAnnCNV can detect CNVs in each sample and extract the shared CNVs among multiple samples. DeAnnCNV also provides additional useful supporting information for the detected CNVs and associated genes to help users to find the potential candidates for further experimental study. The web server is implemented in PHP + Perl + MATLAB and is online available to all users for free at http://mcg.ustc.edu.cn/db/cnv/. |
format | Online Article Text |
id | pubmed-4489280 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-44892802015-07-07 DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data Zhang, Yuanwei Yu, Zhenhua Ban, Rongjun Zhang, Huan Iqbal, Furhan Zhao, Aiwu Li, Ao Shi, Qinghua Nucleic Acids Res Web Server issue With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still in great demand. Here, we present an online tool, DeAnnCNV (Detection and Annotation of Copy Number Variations from WES data), to meet the current demands of WES users. Upon submitting the file generated from WES data by an in-house tool that can be downloaded from our server, DeAnnCNV can detect CNVs in each sample and extract the shared CNVs among multiple samples. DeAnnCNV also provides additional useful supporting information for the detected CNVs and associated genes to help users to find the potential candidates for further experimental study. The web server is implemented in PHP + Perl + MATLAB and is online available to all users for free at http://mcg.ustc.edu.cn/db/cnv/. Oxford University Press 2015-07-01 2015-05-26 /pmc/articles/PMC4489280/ /pubmed/26013811 http://dx.doi.org/10.1093/nar/gkv556 Text en © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Web Server issue Zhang, Yuanwei Yu, Zhenhua Ban, Rongjun Zhang, Huan Iqbal, Furhan Zhao, Aiwu Li, Ao Shi, Qinghua DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
title | DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
title_full | DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
title_fullStr | DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
title_full_unstemmed | DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
title_short | DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
title_sort | deanncnv: a tool for online detection and annotation of copy number variations from whole-exome sequencing data |
topic | Web Server issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489280/ https://www.ncbi.nlm.nih.gov/pubmed/26013811 http://dx.doi.org/10.1093/nar/gkv556 |
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