基于测序数据的碱基突变检测方法、装置及存储介质
阅读说明:本技术 基于测序数据的碱基突变检测方法、装置及存储介质 (Base mutation detection method and device based on sequencing data and storage medium ) 是由 刘斯洋 黄树嘉 金鑫 于 2019-05-15 设计创作,主要内容包括:本文公布一种基于测序数据的碱基突变检测方法、装置及存储介质,所述方法包括确定多个待检测样本的测序数据在研究位点为特定碱基的初始频率;基于所述初始频率计算每个待检测样本在研究位点为特定碱基的期望值;利用每个期望值对所述多个待检测样本的测序数据在研究位点为特定碱基的初始频率进行更新;利用更新后的初始频率继续计算每个待检测样本在研究位点为特定碱基的期望值,直到每个待检测样本在研究位点为特定碱基的期望值收敛;根据每个收敛的期望值确定每个待检测样本在研究位点的碱基突变类型以及变异置信度。(A method, a device and a storage medium for detecting base mutation based on sequencing data are disclosed, wherein the method comprises the steps of determining the initial frequency of the sequencing data of a plurality of samples to be detected, which is a specific base at a research site; calculating the expected value of each sample to be detected at the research site as a specific base based on the initial frequency; updating the initial frequency of the sequencing data of the samples to be detected, which is a specific base at the research site, by using each expected value; continuously calculating the expected value of each sample to be detected, which is a specific base at the research site, by using the updated initial frequency until the expected value of each sample to be detected, which is a specific base at the research site, is converged; and determining the base mutation type and the variation confidence coefficient of each sample to be detected at the research site according to the expected value of each convergence.)
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