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Detection method of gene deletion based on next-generation sequencing

机译:基于下一代测序的基因缺失检测方法

摘要

The present invention relates to a method for detecting a deletion gene group based on a next-generation sequencing method. Although genetic deletion develops into a disease, it is important to find the gene deletion site in the nucleotide sequence analysis. However, the existing variant calling sequence analysis method has a limitation in detecting the deletion gene. However, according to the present invention, the nucleotide sequence analysis method of the present invention accurately diagnoses the wild type, heterotypic deletion type and homo deletion type genes based on the next generation nucleotide sequence analysis, A great benefit is expected in monitoring.
机译:本发明涉及基于下一代测序方法的缺失基因组的检测方法。尽管遗传删除发展成为一种疾病,但是在核苷酸序列分析中找到基因删除位点很重要。但是,现有的变异调用序列分析方法在检测缺失基因方面存在局限性。然而,根据本发明,本发明的核苷酸序列分析方法基于下一代核苷酸序列分析来准确地诊断野生型,异型缺失型和同源缺失型基因,在监测中有望有很大的益处。

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