高通量测序数据的基因组拷贝数变异检测方法综述OACSTPCD
A review of methods for copy number variation detection using high-throughput sequencing data
拷贝数变异是指基因组中发生大片段的DNA序列的拷贝数增加或者减少.根据现有的研究可知,拷贝数变异是多种人类疾病的成因,与其发生与发展机制密切相关.高通量测序技术的出现为拷贝数变异检测提供了技术支持,在人类疾病研究、临床诊疗等领域,高通量测序技术已经成为主流的拷贝数变异检测技术.虽然不断有新的基于高通量测序技术的算法和软件被人们开发出来,但是准确率仍然不理想.本文全面地综述基于高通量测序数据的拷贝数变异检测方法,包括基于reads深度的方法、基于双…查看全部>>
Copy number variation refers to the increase or decrease in the copy number of a large segment of DNA sequence in the genome.Previous studies have revealed that copy number variation is the cause of many human diseases and is closely related to their mechanisms of occurrence and development.The emergence of high-throughput sequencing technology has provided technical support for copy number variation detection,which has become the mainstream copy number vari…查看全部>>
刘珍;刘永壮
哈尔滨因极科技有限公司,哈尔滨 150001哈尔滨工业大学 计算机科学与技术学院,哈尔滨 150001
计算机与自动化
高通量测序数据基因组变异拷贝数变异检测
Next Generation sequencing dataGenome structure variantCopy number variation detection
《生物信息学》 2024 (1)
11-18,8
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