Methylation analysis method and device, terminal equipment and storage medium of circulating cell-free nucleosome active region

Abstract

The invention provides a methylation analysis method and device, a terminal device and a storage medium for the active region of circulating cell-free nucleosomes, wherein the method includes: acquiring the captured sequencing data of the plasma sample to be tested and extracting cfDNA molecular fragments therefrom; For the extracted cfDNA molecular fragments, the window is used for sliding operation in its genomic interval, and the number of cfDNA molecules spanning the entire window from the beginning to the end of each window and the ratio of the number of cfDNA molecules in all different situations covered by the window are calculated; the ratio based on the calculation is passed The method of Kolmonov-Smirnov test screens out the interval with significant difference between the baseline nucleosome activity difference area created based on the healthy person sample, and obtains the nucleosome activity area; calculates the nucleosome activity area screened The methylation phenotype characteristics of the active region can complete the methylation analysis of the active region of circulating cell-free nucleosomes, which can effectively assist in distinguishing the source of the plasma sample to be tested.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a methylation analysis method and device, a terminal device and a storage medium of a circulating cell-free nucleosome active region. Background technique [0002] In recent years, the application of circulating cell-free DNA (circulating free DNA, hereinafter referred to as cfDNA) in biology and diagnosis has attracted widespread attention. Specific mutations also hold great promise for cancer diagnosis and monitoring. DNA methylation is a covalent modification that plays an important role in gene expression. The programming and reprogramming of DNA methylation patterns during embryonic development and somatic cell division is a fundamental paradigm of epigenetics. The centrality of DNA methylation in epigenetics stems from its covalent association with the genome and the persistently high activity of housekeeping DNA methyltransferases during cell division. Hypermethylat...

AI Technical Summary

Problems solved by technology

At present, most studies are limited to the average methylation level of a single methylation site and the methylation level of continuous methylation sites, and there is little analysis of the status of methylation sites in nucleosome active regions. Therefore, there is an urgent need for a methylation analysis method for nucleosome active regions that is of great significance to the biomedical field

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