Method and system for identifying tumor loads in samples

Abstract

The invention provides a method and device for identifying tumor loads in samples, and particularly provides a method for identifying tumor loads in the samples in a non-diagnostic mode. The method comprises the steps that 1, a sample to be tested is provided; 2, sequencing is performed on the sample to be tested, and therefore a genome sequence of the sample is obtained; 3, the genome sequence obtained in the step 2 is compared with a reference genome, and therefore position information of the genome sequence on the reference genome is obtained; 4, the reference genome is divided into M region fragments, wherein each region fragment is a window b, and a copying number of each window b is calculated; 5, each window b in the step 4 is subjected to Z testing, so that a Z value of each window b is calculated; 6, according to the Z value obtained in the step 5, GAS is calculated, and tumor loads in the sample to be tested are identified on the basis of the value of GAS. According to the method and system, sensitivity and universality of tumor detection can be improved.

Description

technical field [0001] The field relates to the field of biotechnology, in particular, to a method and system for identifying tumor burden in a sample. Background technique [0002] In the field of biomedical scientific research and clinical application, tumor cells of cancer patients often have a large number of genome copy number variations. Copy number variation can exist in tumor tissue and body fluids (such as blood, interstitial fluid, lymph fluid, cerebrospinal fluid, urine, saliva, etc.), specifically in free circulating tumor cells (CTCs), free extracellular DNA ( cfDNA), exosomes, etc. Genome copy number variation in body fluids is an important indicator for identifying tumor burden, which can be applied to early screening and diagnosis of tumors, patient condition monitoring, and prognosis treatment. [0003] At present, the main methods for detecting the copy number variation of tumor genome are: comparative genomic hybridization (comparative genomic hybridizat...

AI Technical Summary

Problems solved by technology

[0004] However, the resolution of comparative genomic hybridization is relatively low, Mb level, low throughput, and high cost; fluorescent quantitative PCR also has low throughput, high cost, and can only measure one copy number variation at a time; fluorescent in situ hybridization, only for specific positions, Low resolution, unstable probe hybridization efficiency; multiple ligation probe amplification technology, complex operation, low throughput, high cost, low coverage, easy to cause PCR contamination

In addition to the above-mentioned technical defects, most of the above-mentioned technical detections only target specific regions on the genome, and tumor heterogeneity is very strong, and one or several specific sites cannot effectively comprehensively evaluate the tumor burden in body fluids

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