Device for detecting somatic mutation

Abstract

The invention provides a device for detecting somatic mutation. The device comprises an acquisition module, an annotation module, a screening module, a computing module, a mutation type primary judgment module and a mutation type correction module, wherein the screening module comprises a virtual comparison set, and the virtual comparison set contains 561 cases of mutation information of leukocytes. According to the device, detection data is compared with a database including the virtual comparison set through the screening module, so that embryonal system mutation sites are screened; the computing module is utilized to obtain a mean value and a standard deviation of embryonal system mutation frequency of all chromosomes through computing; then the mutation type primary judgment module and the mutation type correction module are utilized to analyze mutation frequency features of all different mutation sites to determine the type of the mutation sites; and the primarily determined mutation type is corrected through the database of the mutation sites of the known mutation type, so that the mutation sites with somatic mutation in samples are screened out. Through the device, detection accuracy of the mutation sites with somatic mutation is improved.

Description

technical field [0001] The invention relates to the field of detection of somatic cell mutations, in particular to a device for detecting somatic cell mutations. Background technique [0002] There are a large number of mutation sites in the human genome, which can be divided into germline mutation and somatic mutation according to their sources. The former arises from genetic variations carried by the germ cells in the earliest stages of individual formation, which are present in all cells of offspring individuals. In contrast, somatic mutations are not inherited, but acquired during the individual's development. High-throughput sequencing technology provides an important basis for rapidly extracting large amounts of human genome information. By using high-throughput sequencing, the nucleotide sequence of a target gene or a specific region can be obtained from an individual, and then analyzed by mutation detection software such as Mutect. The sequence is analyzed, and the...

AI Technical Summary

Problems solved by technology

[0006] The main purpose of the present invention is to provide a device for detecting somatic mutations to improve the low accuracy of single-sample detection of somatic mutations in the prior art

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