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Gene mutation detection method and apparatus

A technology for deletion mutation and sequencing data, applied in biochemical cleaning devices, biochemical equipment and methods, enzymology/microbiology devices, etc., can solve the problems of low accuracy and low detection throughput, and achieve authenticity and accuracy High degree of accuracy, easy to distinguish false positive effect

Inactive Publication Date: 2017-04-19
天津诺禾致源生物信息科技有限公司
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Problems solved by technology

[0007] The main purpose of the present invention is to provide a method and device for detecting gene mutations to improve the defects of low detection throughput and low accuracy in the prior art

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  • Gene mutation detection method and apparatus
  • Gene mutation detection method and apparatus
  • Gene mutation detection method and apparatus

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Embodiment Construction

[0031] 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.

[0032]First of all, it should be explained that high-throughput sequencing can detect various possible mutations in the sample, including InDel, SNP and large fragment deletion. The deletion mutation detected by the method and device of the present invention is mainly to infer the gene mutation site and the specific type of mutation that may exist in the sample to be tested from a statistical point of view. As for whether it has a direct or indirect relationship with the occurrence of the disease, Multiple verifications of other detection results are still awaited, so the method and device are only suitable for scientific research and academic basic research, but not for clinical diagnosis of d...

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Abstract

The invention discloses a gene mutation detection method and apparatus. The method comprises the following steps: 1, acquiring sequencing data of a sample to be detected and a contrast sample; and 2, judging that whether SNP mutation, InDel mutation and / or deletion mutation exists in the sequencing data of the sample to be detected: (1) carrying out homogenization processing, calculating a standard deviation and median, and calculating the irrelevance Z value according to a formula (1); and (2) judging deletion: judging the deletion mutation exists in the window of the sample to be detected if the Z value Z = (the homogenous sequence number of the sample to be detected - the median) / the standard deviation (1) is greater than 3. The method and the apparatus improve the detection flux and the detection accuracy.

Description

technical field [0001] The invention relates to the field of gene mutation detection, in particular to a method and device for detecting gene mutation. Background technique [0002] Data show that in 2012, there were 14.1 million new cancer patients in the world, and 3.065 million new cases were added in China, accounting for 22%; 8.2 million people died of cancer worldwide, and China accounted for 27%, or 2.206 million people died of cancer. Colorectal cancer is a common malignant tumor of the digestive tract, with approximately 1.02 million new cases and 530,000 deaths worldwide each year. China has entered the ranks of areas with a high incidence of colorectal cancer, and this disease is increasingly threatening people's physical and mental health. The average annual new cases of colorectal cancer in my country is 130,000, and it keeps rising with an average annual growth rate of 4%, ranking third among all tumors in female mortality. [0003] In colorectal cancer, ther...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12M1/34G06F19/22
CPCC12Q1/6869G16B30/00C12Q2537/165
Inventor 李雷李瑞强臧晚春余盼马丽娟于洋蒋智
Owner 天津诺禾致源生物信息科技有限公司
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