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

Abstract

The invention provides a methylation analysis method and device for an active region of circulating cell-free nucleosome, terminal equipment and a storage medium, and the method comprises the steps: obtaining capture sequencing data of a to-be-detected plasma sample, and extracting cfDNA molecular fragments from the capture sequencing data; based on the extracted cfDNA molecular fragments, adopting windows to perform sliding operation in genome intervals of the cfDNA molecular fragments, and calculating the ratio of the number of cfDNA molecules crossing the whole window end to end in each window to the number of all cfDNA molecules in different conditions covered by the window; based on the calculated ratio, screening out an interval having significant difference with a baseline nucleosome activity difference area created according to the healthy person sample through a Kolmonov Schmidov test method to obtain a nucleosome activity area; calculating the methylation phenotypic characteristics of the screened nucleosome active area, completing methylation analysis of the circulating acellular nucleosome active area. The method can effectively assist in distinguishing the source of the plasma sample to be detected.

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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