Method and device for screening and evaluating methylation markers based on targeted capture sequencing

A methylation marker and evaluation method technology, which is applied in the field of methylation marker screening and evaluation, can solve problems such as low sensitivity, narrow application range, and poor compliance, and achieve the effects of optimized calculation, optimized performance, and balanced costs

Active Publication Date: 2021-04-20
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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  • Method and device for screening and evaluating methylation markers based on targeted capture sequencing
  • Method and device for screening and evaluating methylation markers based on targeted capture sequencing
  • Method and device for screening and evaluating methylation markers 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 present invention provides a method and device for screening and evaluating methylation markers based on targeted capture sequencing. The method includes: respectively obtaining the FASTQ files of N samples to be tested for capture and sequencing, and generating a Bam file; calculating each methylation The methylation level and coverage depth of the methylation site were combined to obtain the methylation level matrix and the site depth matrix; for each methylation site, the distance and linearity between it and the next methylation site were calculated. Correlation coefficient, and merged according to the results to obtain the methylation linkage region; calculate the linkage region methylation level average matrix and locus depth average matrix, and screen out the specific linkage region with set differences from the normal group; according to the obtained specificity The methylation score of each sample to be tested is calculated separately for the linkage region, and the methylation markers are evaluated according to the methylation score. The markers screened and evaluated by the present invention can effectively discover the ctDNA methylation signal in plasma and obtain higher sensitivity.

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 Patents(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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