Microsatellite instability detection site screening method based on single tumor sample high-throughput sequencing

Abstract

The invention discloses a microsatellite instability detection site screening method based on single tumor sample high-throughput sequencing. The method is based on an optimized microsatellite site state mark, and the machine learning techniques are employed for modeling analysis of each microsatellite site; whether each sample is in a microsatellite unstable state or not is detected by utilizingthe percentage that effective sites are judged as microsatellite unstable sites, so the microsatellite instable state is detected only by utilizing tumor sample sequencing data, the stability of a plurality of microsatellite sites can be judged with high precision, and the accurate and stable microsatellite instable state gene detection is realized.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a method for screening microsatellite instability detection sites based on high-throughput sequencing data of a single tumor sample. Background technique [0002] In recent years, human genome sequencing technology has been widely used in diseases, health, aging, etc. With the maturity of sequencing technology, especially next-generation sequencing technology has been gradually applied to clinical diagnosis. The invention of next-generation sequencing technology enables sequencing technology to realize two characteristics of automation and high throughput, making sequencing prices lower and lower. In addition to next-generation sequencing technology, current single-cell sequencing also provides more convenience for humans to observe human genome sequence information at the micro level. [0003] At present, tumors have become the main cause of death in China and the burden...

AI Technical Summary

Problems solved by technology

[0006] Although MSI detection is increasingly becoming a routine item in many medical institutions, in actual clinical operations, paired normal samples are not a daily requirement for sample collection; at the same time, matched non-tumor tissues may be difficult in clinical operations. get in

Tumor-normal paired analysis, even if the normal tissue adopts low-depth sequencing, it will still cause a significant increase in cost

Not only that, if the paired normal samples are from blood or saliva, the tumor / normal tissue analysis cannot capture the systematic noise of sample storage and nucleic acid extraction

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