医学分子生物学杂志2012，Vol.9Issue(5)：388-393,6.DOI:10.3870/j.issn.1672-8009.2012.h5.016
全基因组拷贝数变异的检测技术及算法
Advances in Whole-genome CNV Detection Platforms and Tools
摘要
Abstract
Copy number variation (CNV) is one of the types of the genomic structural variations. CNV influences gene expression by changing gene dosage or disrupting genome structure, which is related to the development of common diseases. Microarray technology and sequencing technology are used to detect whole-genome CNVs. In this paper, we summarized the platforms and algorithms for the CNV detection.关键词
拷贝数变异/高通量/基因芯片技术/深度测序技术/复杂疾病Key words
copy number variation/ high through-put/ microarray/ deep sequencing/ common diseases分类
生物科学引用本文复制引用
夏夏,王瑞,周钢桥..全基因组拷贝数变异的检测技术及算法[J].医学分子生物学杂志,2012,9(5):388-393,6.基金项目
国家科技重大专项"艾滋病和病毒性肝炎等重大传染病防治"课题(No.2008ZX10002-016) （No.2008ZX10002-016）
