Fang Li, Wang Kai
Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Methods Mol Biol. 2018;1833:1-28. doi: 10.1007/978-1-4939-8666-8_1.
High-resolution single-nucleotide polymorphism (SNP) genotyping arrays offer a sensitive and affordable method for genome-wide detection of copy number variants (CNVs). PennCNV is a hidden Markov model (HMM)-based CNV caller for SNP arrays, first released 10 years ago. A typical CNV calling procedure using PennCNV includes preparation of input files, CNV calling, filtering CNV calls, CNV annotation, and CNV visualization. Here we describe several protocols for CNV calling using PennCNV, together with descriptions on several recent improvements to the software tool.
高分辨率单核苷酸多态性（SNP）基因分型阵列提供了一种灵敏且经济实惠的全基因组拷贝数变异（CNV）检测方法。PennCNV是一种基于隐马尔可夫模型（HMM）的SNP阵列CNV调用程序，于10年前首次发布。使用PennCNV进行典型的CNV调用过程包括输入文件的准备、CNV调用、CNV调用过滤、CNV注释和CNV可视化。在此，我们描述了几种使用PennCNV进行CNV调用的方案，以及对该软件工具最近几项改进的说明。
