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Method and device and terminal equipment for detecting genetic variation of hereditary disease

A technique for hereditary diseases and gene variation, applied in biochemical equipment and methods, microbiological determination/inspection, etc., can solve the problem of low accuracy of genetic detection, reduce false positive sites and false negative sites, improve Accuracy, the effect of accurate judgment

Inactive Publication Date: 2019-02-01
AEGICARE (SHENZHEN) TECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] In view of this, the embodiment of the present invention provides a method, device and terminal equipment for detecting genetic mutations in genetic diseases, so as to solve the problem of low accuracy in the detection of genetic disease-related genes in the prior art

Method used

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  • Method and device and terminal equipment for detecting genetic variation of hereditary disease
  • Method and device and terminal equipment for detecting genetic variation of hereditary disease
  • Method and device and terminal equipment for detecting genetic variation of hereditary disease

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Embodiment 1

[0033] figure 1 It shows the implementation process of a method for detecting genetic mutations in genetic diseases provided by an embodiment of the present invention, and the process is described in detail as follows:

[0034] In S101, the gene sequencing data of the hereditary disease sample is acquired.

[0035] Taking familial hypercholesterolemia as an example, genetic disease samples can be DNA samples of patients with genetic diseases, such as plasma or serum of patients with familial hypercholesterolemia, and the familial Gene sequencing data from hypercholesterolemic DNA samples.

[0036] In S102, resequencing data analysis is performed on the gene sequencing data to detect mutation sites in the gene sequencing data.

[0037] In this embodiment, the gene sequencing data is detected by GATK (The Genome Analysis Toolkit, Genome Analysis Toolkit), and the mutation site in the gene sequencing data is obtained. The site is the position of a gene or marker on the chromoso...

Embodiment 2

[0081] Such as Figure 7 As shown, an embodiment of the present invention provides a device 100 for detecting genetic mutations in genetic diseases, which is used to perform figure 1 The method step in the corresponding embodiment, it comprises:

[0082] Gene sequencing data acquisition module 110, used to acquire gene sequencing data of genetic disease samples;

[0083] The mutation site detection module 120 is used to analyze the resequencing data of the gene sequencing data and detect the mutation sites in the gene sequencing data;

[0084] The annotation result acquisition module 130 is used to perform mutation annotation on the mutation site according to the preset disease database, and obtain the annotation result of the mutation site;

[0085] The mutation detection result acquisition module 140 is configured to determine the mutation detection result of the mutation site according to the annotation result of the mutation site.

[0086] In the embodiment of the prese...

Embodiment 3

[0111] Figure 8 It is a schematic diagram of a terminal device provided by an embodiment of the present invention. like Figure 8 As shown, the terminal device 8 of this embodiment includes: a processor 80 , a memory 81 , and a computer program 82 stored in the memory 81 and operable on the processor 80 . When the processor 80 executes the computer program 82, it realizes the steps in the above-mentioned embodiments of the method for detecting genetic variation in genetic diseases, for example figure 1 Steps 101 to 104 are shown. Alternatively, when the processor 80 executes the computer program 82, it realizes the functions of the modules / units in the above-mentioned device embodiments, for example Figure 7 The functions of modules 110 to 140 are shown.

[0112] Exemplarily, the computer program 82 can be divided into one or more modules / units, and the one or more modules / units are stored in the memory 81 and executed by the processor 80 to complete this invention. Th...

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Abstract

The invention is applicable to the technical field of genetic variation detection, the invention provides a method and a device and terminal equipment for detecting genetic variation of a hereditary disease; the method comprises the following steps: acquiring gene sequencing data of a hereditary disease sample; carrying out re-sequencing data analysis on the gene sequencing data, and detecting mutation sites in the gene sequencing data; performing mutation annotation on the mutation sites according to a preset disease database to obtain annotation results of the mutation sites; and determininga mutation detection result of the mutation sites according to the annotation results of the mutation sites. The method disclosed by the invention can be used for accurately judging hereditary disease-related genes, false positive sites and false negative sites are reduced, and the accuracy of gene variation detection is improved.

Description

technical field [0001] The invention belongs to the technical field of genetic variation detection, and in particular relates to a method, device and terminal equipment for detecting genetic variation of genetic diseases. Background technique [0002] Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of cholesterol, especially low density lipoprotein (LDL), the "bad cholesterol," in the blood and early cardiovascular disease. Because individuals with FH have slightly different underlying body biochemistry, their high cholesterol levels are less responsive to cholesterol control methods that are often more effective in people without FH (such as dietary modifications and statin pills). [0003] FH is classified as type 2 familial dyslipidemia. There are five types of familial dyslipidemia (not including subtypes), and each is divided by genetic abnormality or lipid profile. For example, high LDL (usually caused by a defect in the LDL rece...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6869
CPCC12Q1/6869C12Q1/6883C12Q2600/156
Inventor 陈玥茏刘永初刘阳李阳吕佩涛
Owner AEGICARE (SHENZHEN) TECH CO LTD
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