拷贝数变异作为基因组变异中一种重要的结构性变异，与疾病的产生与发展紧密关联。基于第二代测序检测拷贝数变异的方法存在准确率较低、大片断难以检测等问题，使用第三代PacBio测序可以有效突破第二代短读长测序技术的瓶颈，目前仅有几款研究第三代测序结构变异的方法，且无法获取拷贝数变异数量信息，没有专用于第三代测序拷贝数变异检测的工具。本项目根据序列与参考基因组比对结果将序列分成部分比对和完全比对两类进行分别处理，以拆分reads检测为核心，辅助reads深度信号，发展可用于全基因组拷贝数变异的检测的算法和流程，构建一种使用第三代PacBio测序技术检测拷贝数变异的方法及高效软件工具，不仅可以有效检测出大片断的拷贝数变异，而且仅需较低乘数测序即可覆盖高重复、高杂合区域，为今后拷贝数变异的精准检测提供新的思路和解决方法。

Copy number variation is an important structural variation in genomic variation and is closely related to the occurrence and development of diseases. Based on second-generation sequencing to detect copy number variation has problems such as low accuracy and difficulty in detecting large fragments, how to quickly and effectively detect copy number variation faces enormous challenges. The third-generation of PacBio sequencing can effectively break through the bottleneck of the second generation with short read sequencing, However, currently there are only a few methods for studying the third-generation sequencing structure variation and cannot obtain the number information of copy number variation.Moreover, there is no special tool for the third generation sequencing copy number variation detection. The project divides the sequence into two categories partial alignment and complete alignment, processes them respectively according to the alignments of reads mapped to reference genome and uses reads split signal detection as the core, assists the signal of reads depth to construct a method of detecting copy number variation using the third-generation PacBio sequencing technology, not only can effectively detects the copy number variation of large fragments, but also covers high-repetition, high-hybrid areas with low coverage sequencing, and provides new ideas and solutions for accurate detection of copy number variation in the future.