Method and device for detecting single sample body cell mutation sites in abnormal tissue and storage medium

Abstract

The invention provides a method and device for detecting single sample body cell mutation sites in abnormal tissue and a storage medium. The method includes the following steps that the effective sequencing sequence of an abnormal sample and the effective sequencing sequence of a simulated normal sample are obtained; in the effective sequencing sequences, basic groups, different from basic groups of the simulated normal sample, of the abnormal sample are obtained, according to the mutation basic group frequency, the types of the basic groups of the abnormal sample and the simulated normal sample are judged, the FISHER is then used for accurately detecting the difference of the types of the basic groups, and according to the difference, the mutation type is judged; by filtering the mutation types, false positive mutation and germ cell mutation are removed, and high-reliability somatic cell mutation sites are obtained. The method has the advantages of being high in sensitivity and specificity, has high sensitivity in mutation detection of known mutation genes, and new mutation genes can be found.

Description

technical field [0001] The invention relates to the technical field of mutation detection, in particular to a method, device and storage medium for detecting mutation sites in single-sample somatic cells in abnormal tissues. Background technique [0002] Genome sequencing technology provides new directions and opportunities for cancer research. In recent decades, researchers have discovered a large number of new tumor driver genes through sequencing technology, which has accelerated the discovery of cancer molecular markers and the process of personalized medicine. . The conventional experimental design is to collect tumor samples and control samples at the same time, and find somatic mutations by comparing the differences between tumor samples and control samples. This is an ideal experimental design, but in fact, some tumor tissues are difficult to obtain control samples or are lost during preservation. These samples still have high research value, so for unpaired samples...

AI Technical Summary

Problems solved by technology

It can be seen that the current somatic mutation detection method based on unpaired samples has great challenges. How to identify reproductive genetic mutations is the key, but the current database, whether it is the human polymorphic genetic site database dbSNP (https: / / www.ncbi.nlm.nih.gov / projects / SNP / ) or the polymorphism database released by the Thousand Genomes Project (http: / / www.internationalgenome.org) cannot contain all human reproductive genetic mutation information, so it is necessary to Use of additional information to filter out reproductive genetic mutations

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