基于家系基因组测序数据的拷贝数变异检测方法研究

As the rapid development of next generation sequencing, family genome sequencing has been widely used in the fields of human disease studies, clinical diagnosis and treatment. The variant calling based on family genome sequencing data is one of the most basic and important aspects. Existing variant calling methods based on family genome sequencing data achieve low accuracy, especially for copy number variation, which greatly limits the wide application of family genome sequencing. This project mainly focuses on the detection of copy number variation based on family genome sequencing data, and improves the accuracy of copy number variation. The main contents are as follows: (i) The allele frequency probability model for copy number variation detection is studied. (ii) The copy number variation detection method based on IBD (Identity By Descent) information is studied. (iii) The post-processing method of copy number mutation detection based on paired-end mapping information and de novo assembly is studied. This project will significantly improve the accuracy of copy number variation detection based on family genome sequencing data, which will lay the foundation for the large-scale application of family genome sequencing in basic research and clinical fields.

随着高通量测序技术的迅猛发展，家系基因组测序广泛应用于人类疾病研究、临床诊断与治疗之中。基于家系基因组测序数据的变异检测是其中最为基础、最为重要的环节之一。目前基于家系基因组测序数据的基因组变异检测方法存在准确率较低的问题，尤其是针对拷贝数变异的检测，大大限制了家系基因组测序的广泛应用。本项目重点研究基于家系基因组测序数据的拷贝数变异检测问题，提高拷贝数变异检测的准确率。本项目的主要内容包括:（1）研究面向拷贝数变异检测的等位基因频率概率模型；（2）研究基于IBD(Identity By Descent )信息的家系基因组拷贝数变异检测方法；（3）研究基于双末端映射信息与从头拼接的拷贝数变异检测后处理方法。本项目的实施将显著提高基于家系基因组测序数据的拷贝数变异检测准确率，为家系基因组测序在基础研究与临床领域的大规模应用奠定基础。

随着高通量测序技术的迅猛发展，家系基因组测序广泛应用于人类疾病研究、临床诊断与治疗之中。基于家系基因组测序数据的变异检测是其中最为基础、最为重要的环节之一。目前基于家系基因组测序数据的基因组变异检测方法存在准确率较低的问题，尤其是针对拷贝数变异的检测，大大限制了家系基因组测序的广泛应用。本项目重点研究基于家系基因组测序数据的拷贝数变异检测问题，提高拷贝数变异检测的准确率。本项目的主要内容包括（1）研究面向拷贝数变异检测的等位基因频率概率模型；（2）研究基于IBD信息的家系基因组拷贝数变异检测方法；（3）研究基于双末端映射信息与从头拼接的拷贝数变异检测后处理方法。本项目的实施将显著提高基于家系基因组测序数据的拷贝数变异检测准确率，为家系基因组测序在基础研究与临床领域的大规模应用奠定基础。