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Liquid biopsy-based ctDNA mutation degree analysis method and device and ctDNA performance analysis device

An analysis method and liquid biopsy technology, applied in the field of biomedicine, can solve problems such as infeasibility, achieve the effects of improving screening efficiency and accuracy, assisting early diagnosis, and high sensitivity

Active Publication Date: 2021-08-13
臻和(北京)生物科技有限公司 +2
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Problems solved by technology

It can be seen that in the early screening detection using DNA mutation as a marker, it is not feasible to realize it by PCR method

Method used

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  • Liquid biopsy-based ctDNA mutation degree analysis method and device and ctDNA performance analysis device
  • Liquid biopsy-based ctDNA mutation degree analysis method and device and ctDNA performance analysis device
  • Liquid biopsy-based ctDNA mutation degree analysis method and device and ctDNA performance analysis device

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Embodiment Construction

[0063] 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.

[0064] In the first embodiment of the present invention, a method for analyzing the degree of mutation of ctDNA based on liquid biopsy, such as figure 1 As shown, including: S10 capture and sequence the plasma sample to be tested according to the pre-created gene mutation panel to obtain a FASTQ file, the cfDNA in the plasma sample to be tested carries a pre-inserted molecular tag; S20 extracts the paired reads in the FASTQ file respectively Molecular tags are stored as uBAM files...

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Abstract

The invention provides a liquid biopsy-based ctDNA mutation degree analysis method and device and ctDNA performance analysis device. The mutation degree analysis method comprises the steps of capturing and sequencing a to-be-detected plasma sample to obtain a FASTQ file; respectively extracting molecular tags in the matched reads and storing the molecular tags as a uBAM file; comparing a gene sequence of the FASTQ file with a reference genome, performing duplicate removal, and combining the gene sequence with the uBAM file to obtain a BAM file containing molecular tags; performing aggregation and duplicate removal on reads in the BAM file; obtaining a sample original mutation set in a gene mutation panel area, and counting gene mutation parameters in the sample original mutation set; filtering the sample original mutation set, and counting gene mutation parameters of each sample; evaluating the mutation degree of the to-be-detected plasma sample according to the gene mutation parameters of the sample, so that the ctDNA mutation detection sensitivity is improved.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a liquid biopsy-based ctDNA mutation degree analysis method and device, and a ctDNA performance analysis device. Background technique [0002] Early screening, early diagnosis, and timely treatment are effective ways to reduce cancer mortality. The European Society for Medical Oncology (ESMO) pointed out that the incidence and mortality of cancer in Western countries are decreasing year by year, mainly due to early screening of cancer, early benign adenoma resection and early treatment of cancer lesions. Discovering and utilizing tumor-specific biomarkers, relying on high-precision detection and analysis methods, targeting the organ of tumor origin and implementing treatment in the early stage of tumor occurrence is a key factor to improve the effect of tumor treatment and prolong the life of patients. Early screening and diagnosis of tumors has far-reaching social and econo...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/50G16B50/30G16B40/00
CPCG16B20/50G16B40/00G16B50/30
Inventor 李庆原谢泓禹刘异倩刘小莉洪媛媛王小庆韩天澄杨顺莉于佳宁陈维之何骥杜波
Owner 臻和(北京)生物科技有限公司
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