Biological information quality control method and device based on next-generation sequencing and storage medium

Abstract

The invention provides a biological information quality control method and device based on next-generation sequencing and a storage medium. The method comprises the steps that sequencing data of a to-be-detected tissue sample and control sample which are from the same individual source is obtained, wherein the control sample is a sample other than the to-be-detected tissue sample; the sequencing data is compared with a reference genome, a locus serving as a homozygous locus in the control sample while serving as a non-homozygous locus in the to-be-detected tissue sample is detected and regarded as contamination, and the contamination degree of the to-be-detected tissue sample is obtained through detection; it is judged whether or not the contamination degree is larger than a contaminationthreshold, if yes, it is determined that contamination exists, and a contamination source is found in the sequencing data in the latest several batches; if the contamination source is found, all mutations of the contamination source are removed from mutation detection results of the sequencing data of the to-be-detected tissue sample; if the contamination source is not found, mutations having themutation frequency less than the contamination degree and belonging to a known population high-frequency reproductive mutation database are removed. The biological information quality control method based on next-generation sequencing can judge the quality state of the sample, and remove false positive mutations caused by the quality problem from the detection results.

Description

technical field [0001] The invention relates to the technical field of biological information, in particular to a biological information quality control method, device and storage medium based on next-generation sequencing. Background technique [0002] Cancer is one of the most important non-communicable diseases in the world, and it is also a disease with a high mortality rate. In my country, nearly 4.3 million people are diagnosed with cancer every year, and more than 2.8 million people die of cancer. [0003] Anti-tumor targeted drugs and immune checkpoint inhibitors are currently more effective means of treating cancer. Most of the targeted drugs target point mutations in key genes. The currently recognized potential indicators for evaluating the efficacy of immune checkpoint inhibitors are TMB (Tumor Mutation Burden), the calculation of TMB is also based on the somatic point mutations in the tumor. It is generally recommended clinically that these drugs be tested for...

AI Technical Summary

Problems solved by technology

The PCR method has the characteristics of high sensitivity, and the technology is mature, but each pair of primers can only detect one mutation, cannot detect too many samples and sites at the same time, and the throughput is low

The cost of Sanger sequencing is low, but the amount of sample required is large, and the detection sensitivity for low-frequency mutations is low

The next-generation sequencing method has the characteristics of high throughput, and the cost of sequencing is also decreasing year by year. However, at present, the sample collection stage is uncontrollable. Under the circumstance of higher and higher requirements for the lower limit of detection, the quality of the sample has a great impact on the accuracy of the test results. very big impact

Images