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

Abstract

The present invention provides a liquid biopsy-based ctDNA mutation degree analysis method and device, and a ctDNA performance analysis device, wherein the mutation degree analysis method includes: capturing and sequencing a plasma sample to be tested to obtain a FASTQ file; extracting molecular tags in paired reads respectively And store it as uBAM file; compare the gene sequence of the FASTQ file with the reference genome and deduplicate, and merge it with the uBAM file to obtain a BAM file containing molecular tags; aggregate and deduplicate the reads in the BAM file; In the gene mutation panel area, the original mutation set of the sample is obtained, and the gene mutation parameters in it are counted; the original mutation set of the sample is filtered, and the gene mutation parameters of each sample are counted; for the gene mutation parameters of the sample, the mutation of the plasma sample to be detected To improve the sensitivity of ctDNA mutation detection.

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...

AI Technical Summary

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

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