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Method and device for detecting somatic cell SNP

A technology of single nucleotide mutation and somatic cell mutation, applied in the field of high-throughput sequencing, to achieve the effect of reducing detection costs

Active Publication Date: 2015-03-25
天津诺禾致源生物信息科技有限公司
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Problems solved by technology

Therefore, in the prior art, a detection method that can not only use a single sample for detection to reduce the detection cost but also detect somatic cell mutations has not been developed. It is still necessary to improve the existing technology to meet the requirements of the above-mentioned somatic cell mutations in the industry. testing requirements

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  • Method and device for detecting somatic cell SNP

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[0023] It should be noted that, in the case of no conflict, the embodiments in the present application and the features in the embodiments can be combined with each other. The present invention will be described in detail below with reference to the accompanying drawings and examples.

[0024] As mentioned in the background technology section, the methods for detecting somatic mutations in the prior art require at least two samples to be sequenced, and the detection cost is high. However, when a single sample is used for sequencing, somatic mutations cannot be detected. In view of the above defects, in a typical embodiment of the present invention, a method for detecting a somatic single nucleotide mutation is provided, such as figure 1 As shown, the method includes the following steps: S1, comparing the DNA sequencing data derived from somatic cells with the reference genome data to obtain the data of all SNP sites; wherein, the data of the SNP sites includes the SNP sites lo...

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Abstract

The invention discloses a method and device for detecting somatic cell SNP. The method comprises the steps of S1, comparing DNA sequencing data of somatic cells with reference genome data to obtain data of all SNP loci; S2, screening out SNP loci which occur on splicing loci and SNP loci which occur on exons and cause nonsynonymous mutation of amino acid to obtain a first SNP locus set; S3, removing SNP loci with the thousand-people mutation frequency higher than 5% in the first SNP locus set to obtain a second SNP locus set; S4, screening out SNP loci which are resources of somatic cell mutation from the second SNP locus set to obtain a third SNP locus set; S5, screening out SNP loci with the frequency of supporting sequences lower than 75% from the third SNP locus set to obtain SNP loci containing somatic cell SNP. By means of the method, somatic cell mutation can be detected through simple samples, and therefore the cost is lowered.

Description

technical field [0001] The invention relates to the field of high-throughput sequencing, in particular to a method and device for detecting single nucleotide mutations in somatic cells. Background technique [0002] Each cell of an individual may carry two types of mutations: germline mutations and somatic mutations. Germline mutations refer to heritable mutations that occur in germ cells, also known as germline mutations. If a germline mutation occurs, all cells in an individual will carry the germline mutation. Mutations other than germline mutations are somatic mutations, which are not inherited from parents but are changed by environmental and other factors. [0003] Using high-throughput sequencing, the sequence covering all genes in the sample can be measured, combined with the relevant variation detection software, all the variation information on the target gene in the sample can be detected. The current method that can be used to detect somatic mutations is the us...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/22C12Q1/68C12M1/34
Inventor 张兰英于海燕张广鑫庞行云孟雪红曹银川吴晓朦李林宋欠欠张燕艳
Owner 天津诺禾致源生物信息科技有限公司
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