Method and device for simultaneously detecting DNA methylation and genome variation and storage medium

Abstract

The invention discloses a method and device for simultaneously detecting DNA methylation and genome variation and a storage medium. The method comprises the steps: a methylation site restoration step: restoring a methylation site into an original C basic group or G basic group according to the DNA methylation information of a to-be-detected sample, and obtaining the restored sequencing data of the to-be-detected sample; and mutation detection: taking the repaired sequencing data of the sample to be detected as an input sample for mutation detection, and carrying out mutation detection on the sample to be detected to obtain genome mutation information of the sample to be detected. According to the method, the DNA methylation information and the genome variation information of the sample to be detected can be simultaneously obtained by sequencing the DNA library of the sample to be detected once, so that not only is the genome variation detection period shortened, but also false positive mutation caused by DNA methylation is prevented from being detected; thereby improving the genome variation detection precision.

Description

technical field [0001] The present application relates to the field of gene mutation detection, in particular to a method, device and storage medium for simultaneously detecting DNA methylation and genome variation. Background technique [0002] DNA methylation is a form of chemical modification of DNA that can alter genetic expression without changing the DNA sequence. DNA methylation is one of the most well-studied epigenetic regulation mechanisms so far. This modification is a normal and common modification in eukaryotic cells, but gene expression is affected. There are many ways of methylation modification. The bases to be modified can be the N-6 position of adenine, the N-4 position of cytosine, the N-7 position of guanine and the C-5 position of cytosine. They are respectively catalyzed by different DNA methylases. Although there are various modification methods, most of the methylation occurs in the transposon region and the gene region of the gene, and relatively ...

AI Technical Summary

Problems solved by technology

[0006] However, in the existing sequencing technology, if you want to detect genomic variation information while detecting DNA methylation, you need two samples for experiment and sequencing analysis respectively, which is costly and takes a long time.

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