Your browser doesn't support javascript.
loading
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.
Afiliação
  • Zhang Y; Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Disease, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China.
  • Yu Z; School of Information Science and Technology, University of Science and Technology of China, Hefei 230027, China.
  • Ban R; School of Information Science and Technology, University of Science and Technology of China, Hefei 230027, China.
  • Zhang H; Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Disease, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China.
  • Iqbal F; Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Disease, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China Institute of Pure and Applied Biology,
  • Zhao A; Hefei Institute of Physical Science, China Academy of Science, Hefei 230027, China.
  • Li A; School of Information Science and Technology, University of Science and Technology of China, Hefei 230027, China Research Centers for Biomedical Engineering, University of Science and Technology of China, Hefei 230027, China aoli@ustc.edu.cn.
  • Shi Q; Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Disease, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China qshi@ustc.edu.cn.
Nucleic Acids Res ; 43(W1): W289-94, 2015 Jul 01.
Article em En | MEDLINE | ID: mdl-26013811
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/.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Exoma Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Exoma Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article