CN110462063A - 一种基于测序数据的变异检测方法、装置和存储介质 - Google Patents

一种基于测序数据的变异检测方法、装置和存储介质 Download PDF

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CN110462063A
CN110462063A CN201780089042.9A CN201780089042A CN110462063A CN 110462063 A CN110462063 A CN 110462063A CN 201780089042 A CN201780089042 A CN 201780089042A CN 110462063 A CN110462063 A CN 110462063A
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CN110462063B (zh
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莫晓东
杨焕杰
张涛
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BGI Shenzhen Co Ltd
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Abstract

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。

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PCT国内申请，说明书已公开。

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  1. PCT国内申请，权利要求书已公开。
CN201780089042.9A 2017-05-23 2017-05-23 一种基于测序数据的变异检测方法、装置和存储介质 Active CN110462063B (zh)

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CN111292803B (zh) * 2020-02-10 2024-04-26 广州金域医学检验集团股份有限公司 基因组断裂点识别方法及应用
CN113517022B (zh) * 2021-06-10 2024-06-25 阿里巴巴达摩院(杭州)科技有限公司 基因检测方法、特征提取方法、装置、设备及系统

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