Microsatellite instability detection device, computer equipment and computer storage medium

Abstract

The invention relates to a microsatellite instability detection device capable of improving result accuracy, computer equipment and a computer storage medium. The microsatellite instability detectiondevice screens out a sensitive MS site consistent with existing sensitive MS site data from screened credible MS loci according to the existing sensitive MS site data; filtering the screened sensitiveMS site, and screening unstable MS sites; and carrying out scoring analysis on the unstable MS sites of a tumor sample. According to the microsatellite instability detection method, the problems existing in the traditional technology are fully considered, on the basis of sensitive MS site data established in the earlier stage, a more accurate result can be obtained by using a lower sequencing data volume, and due to the small data volume, the whole processing flow is faster and higher in efficiency, and the occurrence of false positive and false negative results can be effectively reduced.

Description

Technical field [0001] The present invention relates to the technical field of molecular biology and bioinformatics, in particular to a microsatellite instability detection device, computer equipment and computer storage medium. Background technique [0002] Microsatellite (MS for short) sequence is a short tandem repeat DNA sequence that exists widely in the human genome. It is generally composed of 1-6 base tandem repeats repeated many times. When the human body's mismatch repair (MMR) mechanism is defective, the length of MS sequence will change, which is called Microsatellite instability (MSI). MSI exists in a variety of solid tumors, such as endometrial cancer, gastric adenocarcinoma, and colorectal adenocarcinoma. It is an important molecular marker that prompts tumor prognosis and makes adjuvant treatment plans. NCCN (National Comprehensive Cancer Network) guidelines point out that all patients with stage II colorectal cancer and patients with metastatic colorectal cancer...

AI Technical Summary

Problems solved by technology

[0005] At present, IHC and PCR, the internationally used MSI detection methods, are based on experiments. The purpose is very clear, the results obtained are relatively simple, and important information such as gene mutations that are of great help to diagnosis and treatment and medication cannot be obtained. Especially IHC, an experiment You can only know whether one protein exists. If you need to know the expression of multiple MMR-related genes, you need to do multiple experiments

The commonly used MSI detection software is designed for whole genome sequencing or whole exome sequencing, and all MS sites on the genome or exons need to be considered at the same time, and its software parameters and filtering standards are also set in a targeted manner However, when applied to targeted gene sequencing, there will be defects of insufficient accuracy and sensitivity

Moreover, not all MS sites falling within the target gene region have calculation value, and a large part of them have no significant difference between tumor samples and normal control samples. If these sites are included in the calculation range, it will reduce the software Algorithm accuracy, resulting in false positive or false negative results

In addition, the current detection algorithm screening filter conditions are often set for small sample bases for experimental detection, and the sample groups faced are relatively simple, such as the methods disclosed in patents CN107058551A and CN107526944A, and the sensitive MS bits used This is not conducive to the promotion and use of detection algorithms, and it is also not conducive to the discovery of MSI loci that are not clearly associated with diseases. The reliability of the algorithm detection results also needs to be improved

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