Methylation marker screening and evaluating method and device based on targeted capture sequencing

A technology of methylation markers and evaluation methods, which is applied in the field of methylation marker screening and evaluation, and can solve problems such as low sensitivity, narrow application range, and poor compliance

Active Publication Date: 2021-02-23
臻和(北京)生物科技有限公司 +1
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Problems solved by technology

[0004] In view of the above problems, the present invention provides a method and device for screening and evaluating methylation markers based on targeted capture sequencing, which effectively solves the technical problems of poor compliance, narrow scope of application, and low sensitivity in existing methylation sequencing

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  • Methylation marker screening and evaluating method and device based on targeted capture sequencing
  • Methylation marker screening and evaluating method and device based on targeted capture sequencing
  • Methylation marker screening and evaluating method and device based on targeted capture sequencing

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Embodiment Construction

[0090] In order to more clearly illustrate the embodiments of the present invention or the technical solutions in the prior art, the specific implementation manners of the present invention will be described below with reference to the accompanying drawings. Obviously, the accompanying drawings in the following description are only some embodiments of the present invention, and those skilled in the art can obtain other accompanying drawings based on these drawings and obtain other implementations.

[0091] Such as figure 1 Shown is a schematic flow chart of the methylation marker screening and evaluation method based on targeted capture sequencing provided by the present invention. It can be seen from the figure that the methylation marker screening and evaluation method includes:

[0092] S10 Obtain the FASTQ files captured and sequenced by N samples to be tested respectively, and compare them with the reference genome to generate Bam files, and the samples to be tested are ...

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Abstract

The invention provides a methylation marker screening and evaluating method and device based on targeted capture sequencing, and the method comprises the steps: respectively obtaining FASTQ files of capture sequencing of N to-be-detected samples, and generating a Bam file; calculating the methylation level and the coverage depth of each methylation site, and combining to obtain a methylation levelmatrix and a site depth matrix; for each methylation site, calculating the distance and the linear correlation coefficient between the methylation site and the next methylation site, and combining according to the result to obtain a methylation linkage region; calculating a methylated water average value matrix and a site depth average value matrix of the linkage region, and screening out a specific linkage region with a set difference from a normal population group; respectively calculating the methylation score of each to-be-detected sample according to the obtained specific linkage region,and evaluating the methylation marker according to the methylation score. The marker screened and evaluated by the invention can be used for effectively discovering ctDNA methylation signals in bloodplasma, so higher sensitivity is obtained.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a method and device for screening and evaluating methylation markers. Background technique [0002] Circulating tumor DNA (circμLating tumor, ctDNA) is produced by tumor cells due to secretion, apoptosis or necrosis, and is a kind of circulating free DNA (circμLating cell-free DNA, cfDNA). ctDNA has a short half-life in blood and carries some characteristics unique to tumor cells, which can be used for early screening or real-time monitoring of tumor patients. In addition to single nucleotide polymorphisms (Single Nucleotide Polymorphisms, SNP), insertion-deletion markers (insertion-deletion, InDel) and copy number variation (copy number variation, CNV), methylation is an important link in the regulation of gene expression , can also affect the stability of the genome. For the methylation status of some specific sites or regions, there will be significant differences betwee...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B40/00G16B30/10G16B20/30G16B20/20G06F17/16
CPCG06F17/16G16B20/20G16B20/30G16B30/10G16B40/00
Inventor 韩天澄宋小凤于佳宁洪媛媛裴志华何骥陈维之杜波
Owner 臻和(北京)生物科技有限公司
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