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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...

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Detalles Bibliográficos
Autores principales: Zhang, Yuanwei, Yu, Zhenhua, Ban, Rongjun, Zhang, Huan, Iqbal, Furhan, Zhao, Aiwu, Li, Ao, Shi, Qinghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
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/.
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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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