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Gene testing method and device

A gene detection and target gene technology, which is applied in the computer field, can solve the problems of error detection results, reduce the accuracy of detection results, etc., and achieve the effect of improving accuracy

Inactive Publication Date: 2019-09-20
BEIJING CANCER HOSPITAL PEKING UNIV CANCER HOSPITAL +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In the actual sequencing process, it is necessary to detect the position of the gene mutation in the gene, but the detection results in the prior art may be wrong, for example: due to equipment reasons or operational errors, the gene mutation is also detected at the position where the gene mutation does not occur, thus Reduced the accuracy of the test results

Method used

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  • Gene testing method and device
  • Gene testing method and device
  • Gene testing method and device

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0051] figure 1 A schematic flow diagram of a gene detection method provided in Example 1 of the present application, such as figure 1 As shown, the gene detection method includes the following steps:

[0052] Step 101, obtaining the fastq file corresponding to the target gene fragment.

[0053] Step 102, using the reference genome to perform mutation detection on the fastq file to determine the location of the gene mutation in the target gene segment.

[0054]Step 103, using the reference genome to perform a preset number of repeated detections on the fastq file to determine the cause of the gene mutation detected at this position.

[0055] Specifically, after a complete genome is processed by next-generation sequencing technology, multiple gene fragment sequences can be obtained, and each gene fragment sequence includes three parts: joint data, gene fragment itself and tail data, wherein the joint data and The tail data is to facilitate the reading of the gene fragment it...

Embodiment 2

[0069] image 3 A schematic structural diagram of a gene detection device provided in Example 2 of the present application, such as image 3 As shown, the genetic testing device includes:

[0070] An acquisition unit 31, configured to acquire the fastq file corresponding to the target gene fragment;

[0071] Determining unit 32, for using the reference genome to perform mutation detection on the fastq file to determine the position of the gene mutation in the target gene segment;

[0072] The detection unit 33 is configured to use the reference genome to perform a preset number of repeated detections on the fastq file, so as to determine the cause of the gene mutation detected at this position.

[0073] In a feasible embodiment, when the configuration of the detection unit 33 is used for the repeated detection of the preset number of fastq files using the reference genome, it includes:

[0074] According to the preset number of times, the fastq file is copied to obtain the ...

Embodiment 3

[0084] Figure 7 A schematic structural diagram of an electronic device provided in Embodiment 3 of the present application, including: a processor 701, a storage medium 702 and a bus 703, and the storage medium 702 includes such as image 3 In the device shown, the storage medium 702 stores machine-readable instructions executable by the processor 701. When the electronic device executes the above positioning method, the processor 701 and the storage medium 702 are connected through a bus 703 communication, the processor 701 executes the machine-readable instructions to perform the following steps:

[0085] Obtain the fastq file corresponding to the target gene fragment;

[0086] Using the reference genome to perform mutation detection on the fastq file to determine the position of the gene mutation in the target gene fragment;

[0087] The reference genome is used to perform a preset number of repeated detections on the fastq file to determine the cause of the gene mutatio...

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Abstract

The invention provides a gene testing method and a device, wherein the method comprises the steps of acquiring a fastq file which corresponds with a target gene fragment; performing mutation testing on the fastq file by means of a reference genome for determining a gene mutation position in the target gene fragment; and performing preset number of repeated testing on the fastq file by means of the reference genome, thereby determining a reason for gene mutation at the position. The gene testing method can test a fact that gene mutation really occurs at the position where gene mutation is detected or the gene mutation is caused by mis-testing, thereby improving testing result accuracy, accurately determining the positions with real gene mutation in the target gene, and supplying accurate data for subsequent processing.

Description

technical field [0001] The present application relates to the field of computer technology, in particular, to a gene detection method and device. Background technique [0002] With the development of gene sequencing technology, the cost of gene sequencing is getting lower and lower, which has greatly promoted researchers' research on hereditary tumors. In the actual sequencing process, it is necessary to detect the position of the gene mutation in the gene, but the detection results in the prior art may be wrong, for example: due to equipment reasons or operational errors, the gene mutation is also detected at the position where the gene mutation does not occur, thus The accuracy of the detection results is reduced. Contents of the invention [0003] In view of this, the purpose of the embodiments of the present application is to provide a genetic detection method and device to improve the accuracy of genetic detection results. [0004] In the first aspect, the embodimen...

Claims

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Application Information

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IPC IPC(8): G16B30/00G16B20/20
CPCG16B20/20G16B30/00
Inventor 季加孚史文钊贾淑芹冯懿莫维克赵志强
Owner BEIJING CANCER HOSPITAL PEKING UNIV CANCER HOSPITAL
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