A remark on copy number variation detection methods

Copy number variations (CNVs) are gain and loss of DNA sequence of a genome. High throughput platforms such as microarrays and next generation sequencing technologies (NGS) have been applied for genome wide copy number losses. Although progress has been made in both approaches, the accuracy and consistency of CNV calling from the two platforms remain in dispute. In this study, we perform a deep analysis on copy number losses on 254 human DNA samples, which have both SNP microarray data and NGS data publicly available from Hapmap Project and 1000 Genomes Project respectively. We show that the copy number losses reported from Hapmap Project and 1000 Genome Project only have

拷贝数变异（Copy number variations, CNVs）指基因组DNA序列的扩增与缺失。诸如微阵列芯片与下一代测序技术（Next Generation Sequencing, NGS）等高通量平台，已被应用于全基因组范围的拷贝数缺失检测。尽管两种技术路径均已取得进展，但二者平台的拷贝数变异调用准确性与一致性仍存在争议。本研究针对254例人类DNA样本的拷贝数缺失展开深度分析，这些样本同时具备来自国际人类基因组单体型图计划（HapMap Project）公开的单核苷酸多态性微阵列芯片数据，以及来自千人基因组计划（1000 Genomes Project）公开的测序数据。研究显示，国际人类基因组单体型图计划与千人基因组计划所报道的拷贝数缺失仅存在