Method for distinguishing gene mutation type from individual tumor sample based on second-generation sequencing

Abstract

The invention relates to a method for distinguishing gene mutation types an individual tumor sample based on second-generation sequencing. A tumor tissue sample and a normal tissue sample are used forlibrary construction and NGS sequencing respectively, strand bias and different types of base frequencies of mutation sites stored in an intermediate file BAM for biological information analysis of the tumor tissue sample are analyzed, the quality of base comparison and the frequency of noise are used as the training characteristics of machine learning, meanwhile, type information of corresponding mutation sites of the normal tissue sample is paired to serve as a prediction mutation type, a classification prediction model is constructed to distinguish somatic mutation from germline mutation,the model is used to distinguish somatic mutation from germline mutation, the detection efficiency is high, the specificity is high, and after the model is established, the individual tumor sample canbe used for NGS sequencing and mutation detection, the detection cost of a normal or cancer sample can be well saved, and meanwhile, the problem that normal tissues of tumor patients with specific types are difficult to obtain can be solved.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a method for distinguishing gene mutation types from individual tumor samples based on next-generation sequencing. Background technique [0002] High-throughput sequencing (NGS) is a large-scale parallel sequencing technology. By using high-throughput sequencing, the sequence covering all genes in the sample can be measured. Combined with related variation detection software, geneticists and oncologists can make a single The gene mutation information of multiple target regions on the genome can be obtained efficiently. Different types of gene mutations may occur in each cell of an individual. Gene mutations can be divided into hereditary mutations and somatic mutations according to their sources. Inherited mutations are inherited from parents. Because mutations exist in the germ cells of both parents , so genetic mutations are also called germline mutations or...

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Problems solved by technology

However, the disadvantage of the above method is that the criteria for judging germline mutations and somatic mutations mainly rely on existing databases, and do not take into account the positive and negative strand preference of sequenced DNA fragments generated during the experimental detection process and the mutation frequency of germline mutations themselves. Some germline mutations that are not recorded in the database are not filtered and are judged as somatic mutations. At the same time, some somatic mutations are filtered out because the positions and mutated amino acids are consistent with dbSNP, and are judged as It is a germline mutation, which leads to a low specificity of discrimination, only 67% effect

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