DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data

被引：26
|
作者：
Zhang, Yuanwei [1 ,2 ]
Yu, Zhenhua [3 ]
Ban, Rongjun [3 ]
Zhang, Huan [1 ,2 ]
Iqbal, Furhan [1 ,2 ,4 ]
Zhao, Aiwu [5 ]
Li, Ao [3 ,6 ]
Shi, Qinghua [1 ,2 ]
机构：
[1] Univ Sci & Technol China, Hefei Natl Lab Phys Sci Microscale, CAS Key Lab Innate Immun & Chron Dis, Mol & Cell Genet Lab, Hefei 230027, Peoples R China
[2] Univ Sci & Technol China, Sch Life Sci, Hefei 230027, Peoples R China
[3] Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Peoples R China
[4] Bahauddin Zakariya Univ, Inst Pure & Appl Biol, Multan 60800, Pakistan
[5] Chinese Acad Sci, Hefei Inst Phys Sci, Hefei 230027, Peoples R China
[6] Univ Sci & Technol China, Res Ctr Biomed Engn, Hefei 230027, Peoples R China
来源：
NUCLEIC ACIDS RESEARCH | 2015年 / 43卷 / W1期
基金：
中国国家自然科学基金;
关键词：
HIDDEN MARKOV MODEL; HETEROZYGOSITY; VARIANTS; DISCOVERY;
D O I：
10.1093/nar/gkv556
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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/.
引用
收藏
页码：W289 / W294
页数：6
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