CNV-seq, a new method to detect copy number variation using high-throughput sequencing.
CNV-seq, a new method to detect copy number variation using high-throughput sequencing.
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DOI：
10.1186/1471-2105-10-80
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发表时间：
2009-03-06
影响因子：
3
通讯作者：
Tammi MT
中科院分区：
文献类型：
--
作者：
Xie C;Tammi MT
DNA拷贝数变化（CNV）已被认为是遗传变异的重要来源。
在这里，我们描述了使用shot弹枪测序检测拷贝数变化的方法，该方法基于一个可靠的统计模型，该模型描述了完整的分析过程，并允许计算CNV的必需置信度值结果表明，读取的数量，而不是读取的长度是确定检测分辨率的关键因素。
覆盖率之间的各种测序方法的仿真显示了91.7 - 99.9％之间的总体特异性，而我们的灵敏度在72.2 - 96.5％之间，我们还显示了两个单个人类基因组之间CNV的结果。
DNA copy number variation (CNV) has been recognized as an important source of genetic variation. Array comparative genomic hybridization (aCGH) is commonly used for CNV detection, but the microarray platform has a number of inherent limitations. Here, we describe a method to detect copy number variation using shotgun sequencing, CNV-seq. The method is based on a robust statistical model that describes the complete analysis procedure and allows the computation of essential confidence values for detection of CNV. Our results show that the number of reads, not the length of the reads is the key factor determining the resolution of detection. This favors the next-generation sequencing methods that rapidly produce large amount of short reads. Simulation of various sequencing methods with coverage between 0.1× to 8× show overall specificity between 91.7 – 99.9%, and sensitivity between 72.2 – 96.5%. We also show the results for assessment of CNV between two individual human genomes.
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