Microsatellite loci for detecting msi, screening method and application thereof

A technology of microsatellite sites and screening methods, which is applied in the field of detecting MSI microsatellite sites, can solve the problems of low accuracy of test results, and achieve high sensitivity and specificity, high sensitivity and high specificity
CN112365922BActive Publication Date: 2021-06-15臻和(北京)生物科技有限公司 +1
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
臻和(北京)生物科技有限公司
Publication Date
2021-06-15

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Abstract

The invention provides a microsatellite site for detecting MSI, its screening method and application. The screening method includes: selecting microsatellite loci with A or T single-base repeat sequences of ≤15 bp and whose flanking sequence similarity value is lower than the similarity threshold, and recording them as the first locus set; obtaining sequencing data of multiple MSS samples and Screen and count the type of repeating unit and the frequency of each repeating unit in the first locus set; select the locus that satisfies the second condition as the second locus set, and the second condition includes: 1) the highest frequency The type of repeating unit is consistent with the reference sequence; 2) The capture efficiency in the process of library construction and sequencing is higher than the capture threshold; 3) The polymorphism in the population is less than 5%; count and retain every Sites where there is a significant difference in the deletion ratio between the negative sample group and the positive sample group. The screened sites can improve the sensitivity and specificity of detection.
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Description

technical field

[0001] The invention relates to the field of high-throughput sequencing data analysis, in particular to a microsatellite site for detecting MSI, its screening method and application. Background technique

[0002] Microsatellite instability (MSI) is a phenotypic manifestation of mismatch repair (MMR) deficiency and is increasingly used as a biomarker in clinical tumor diagnosis and treatment. Compared with PCR-based MSI detection, NGS-based MSI detection has several clinical advantages: MSI detection and other detections, such as SNV, can be performed simultaneously in a customized targeted panel. In addition, MSI detection based on PCR detection requires high tumor purity (>20%), and MSI detection based on NGS can reduce the requirement of tumor content due to the optimization of the algorithm.

[0003] NGS-based MSI detection methods are developing rapidly. The current conventional deduplication strategy is "based on the highest sum of base quality value...

Claims

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