Method and device for simultaneously detecting methylation level, genome variation and insert fragment

Abstract

The invention provides a method for simultaneously detecting a methylation level, genome variation and an insert fragment by utilizing a methylation non-bisulfite sequencing technology. The genome variation comprises gene mutation, copy number variation and structural variation. The invention also provides a device and equipment for implementing the method, and a corresponding computer readable medium. According to the invention, for methylated non-bisulfite sequencing data, one-step detection and analysis from offline data to multiple dimensions of methylation level, genome variation and insert fragments are realized, the method is suitable for whole genome and targeted capture data types of methylated non-bisulfite, and analysis of a single cancer sample and paired samples (cancer samples containing control samples) can be carried out.

Description

technical field [0001] The present invention relates to the technical field of bioinformatics, in particular to a method for simultaneously detecting methylation levels, genome variations and inserts, devices and equipment for implementing the method, and corresponding computer-readable media. Background technique [0002] DNA methylation is a kind of chemical modification of DNA, which can change the genetic material without changing the DNA sequence. As early as 1925, DNA methylation modification has been discovered. Numerous studies have shown that DNA methylation has an epigenetic role in gene regulation. Among DNA methylation, the most studied is 5-methylcytosine (5mC), which is generally regarded as a stable repressive regulator of gene expression. The current DNA methylation detection method based on next-generation sequencing technology is to convert unmethylated cytosine (C) into uracil (U) by bisulfite, and then use U tolerance in the PCR process. The polymerase...

AI Technical Summary

Problems solved by technology

Since more than 90% of C in BS sequencing data is transformed, and DNA damage will be generated during the transformation process, genomic variation and insert fragment analysis cannot be performed

Therefore, it is still not possible to simultaneously detect methylation level, genomic variation (gene mutation, copy number variation, structural variation) and insert fragment analysis on DNA sequencing data in this field.

Images