High-throughput DNA methylation omics information based molecular diagnosis and detection method

Abstract

The invention discloses a high-throughput DNA methylation omics information based molecular diagnosis and detection method. According to the method, high-throughput omics raw data are generated from key platforms such as the Illumina Human Methylation 450K DNA BeadChip and the reduced representation bisulfite sequencing (RRBS) technology. Specifically, the method includes: firstly performing a series of previous steps such as assembly, recombination and assignment of multiple chromosome chains and fragments, then performing full karyotype screening in all cell lines according to global chromosome fragment assignment information and information of high-throughput omics, and comparing with a multimode reference group to realize detection and diagnosis of high-risk and pathogenic associated fragments of chromosome double-chains finally. The method overcomes various defects such as single source and low reliability in the field of domestic and oversea molecular diagnosis and detection and has a good prospect of market development in the field of fundamental research and clinical diagnosis.

Description

technical field [0001] The invention relates to a molecular diagnosis and detection method based on high-throughput DNA methylation omics information, which belongs to the application field of high-throughput omics technology in biomedical non-invasive detection technology. Background technique [0002] DNA methylation is an important epigenetic process. It plays an important role in maintaining normal cellular function, genetic imprinting, embryonic development, and human tumorigenesis. With the improvement of the research level of methylation, its detection and analysis technology has been paid more and more attention in the fields of academic and engineering applications. According to different research and application purposes, there are a variety of methylation detection methods based on restriction endonucleases, methylation-sensitive single nucleotide drug extensions, methylation-sensitive amplified polymorphisms, and immunochemical methods. Analytical methods, but ...

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Problems solved by technology

According to different research and application purposes, there are a variety of methylation detection methods based on restriction endonucleases, methylation-sensitive single nucleotide drug extensions, methylation-sensitive amplified polymorphisms, and immunochemical methods. Analytical methods, but most of them still have certain defects in technology or require sophisticated and more expensive detection instruments, which limits the application range of this type of technology in academic research and engineering fields to a considerable extent

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