A microsatellite instability detection system and method based on genome sequencing

Abstract

The invention discloses a microsatellite instability detecting system and method based on genome sequencing. The method comprises the steps that microsatellite detecting site selection is conducted, wherein an effective detecting site is selected according to sequencing data of a certain tumor sample, the threshold value of the instability of a single microsatellite corresponding to the effectivedetecting site and the evaluation standard of the instability of the microsatellite of a certain tumor sample are computed; microsatellite instability detection is conducted on a detected sample according to the threshold value of the instability of the single microsatellite corresponding to the effective detecting site and the evaluation standard of the instability of the microsatellite of the certain tumor sample. The system and the method have the advantages that the system and the method do not rely on a control sample, the pain on a detected person caused by sampling can be reduced, all genetic information of the detected person is included in the control sample, the probability of privacy leakage of the detected person can be reduced by not using the control sample, and the detectioncost can be reduced by not detecting the control sample; the operation is convenient, the cost is low, and the confidence level is high.

Description

technical field [0001] The invention relates to a microsatellite instability detection method, in particular to a microsatellite instability detection system and method based on genome sequencing. Background technique [0002] In recent years, human genome sequencing technology has been widely used in diseases, health, aging and other aspects. With the maturity of sequencing technology, especially next generation sequencing technology (Next Generation Sequencing, NGS, that is, next-generation sequencing) has been gradually applied in clinical diagnosis. The invention of next-generation sequencing technology enables sequencing technology to realize the two characteristics of automation and high-throughput, which makes sequencing prices lower and lower. So far, a person's whole genome data can be obtained for about US$1,000. In addition to next-generation sequencing technologies, real-time single-molecule sequencing represented by PacBio and Oxford Nanopore, and single-cell s...

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Problems solved by technology

Although this method does not require normal control samples, it needs to perform mutation detection on the samples, which will consume a lot of computing resources and time, and the accuracy of this method depends on the accuracy of the mutation detection results, while the current genomic variation detection The stability of the results is poor, especially in the repeat region of microsatellite type

[0009] MSIsensor (Niu, B., et al. MSIsensor: microsatellite instability detection using paired tumor-normal sequence data. Bioinformatics 2014; 30(7): 1015-1016.) and MOSAIC (Hause, R.J., et al. Classification and characterization of microsatellite instability across 18cancer types. Nat Med 2016; 22(11):1342-1350.) Directly extract the features of microsatellites on the genome to judge the stability of subsequent microsatellites. There is no problem of computing resources and time, and the accuracy rate is relatively high. However, normal samples are required as controls, which not only increases the cost but also cannot be detected when normal samples cannot be obtained, which has great limitations in application

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