一种基于测序数据的变异检测方法、装置和存储介质制造方法及图纸

一种基于测序数据的变异检测方法、装置和存储介质，该方法包括：将来源于同一群体的多个个体的测序数据比对到参考基因组并进行变异检测，得到读长的比对位置和变异信息；针对各个变异位点，将群体中所有个体的变异位点总深度、变异碱基型深度分别加和，然后计算各个变异位点在群体中的次等位基因频率和/或哈迪温伯格平衡；绘制变异位点总深度和/或变异碱基型深度与dbSNP%关系图，并对变异位点总深度和/或变异碱基型深度以及次等位基因频率和/或哈迪温伯格平衡进行过滤；对每个个体的变异信息进行过滤，得到每个个体的最终变异信息。本发明专利技术的方法能够利用群体的低深度测序数据进行精准的变异检测，提高数据利用率。

A mutation detection method, device and storage medium based on sequencing data

A mutation detection method, device and storage medium based on sequencing data, which includes: in the future, the sequencing data of multiple individuals from the same population are compared to the reference genome and mutation detection is carried out to obtain the comparison position and variation information of the reading length; for each mutation site, the total depth of the mutation site and the variation base type depth of all individuals in the population are added respectively Then calculate the sub allele frequency and / or hardy Weinberg equilibrium of each variation site in the population; draw the relationship between the total depth of variation site and / or variation base type depth and dbSNP%, and filter the total depth of variation site and / or variation base type depth, sub allele frequency and / or Hardy Weinberg equilibrium; filter the variation information of each individual, and get To the final variation information of each individual. The method of the invention can use the low-depth sequencing data of the population to carry out accurate mutation detection and improve the data utilization rate.

【技术实现步骤摘要】
【国外来华专利技术】PCT国内申请，说明书已公开。

【技术保护点】
PCT国内申请，权利要求书已公开。/n

【技术特征摘要】
【国外来华专利技术】PCT国内申请，...

【专利技术属性】
技术研发人员：莫晓东，杨焕杰，张涛，
申请(专利权)人：深圳华大生命科学研究院，
类型：发明
国别省市：广东;44