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Method and device for acquiring mutational sites of genes corresponding to respiratory system

A respiratory system and gene locus technology, applied in the field of acquisition of mutation sites, can solve the problems of limited number of mutation sites, biased prediction results, and inability to simultaneously determine mutation status.

Inactive Publication Date: 2017-02-15
成都鑫云解码科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] The existing determination of the mutation of the respiratory system gene site is usually to obtain the base mutation of the gene site at a specified position of the gene to be tested by chemical means. The number of mutation sites obtained by this acquisition method is limited. Usually only the mutation of a certain base or a few bases can be obtained, and the mutation of as many mutation sites as possible in the gene corresponding to the respiratory system in the gene to be tested cannot be determined at the same time, so that the follow-up combination with other information can be used for respiratory analysis. There may be large deviations in the prediction results of the prevalence of diseases

Method used

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  • Method and device for acquiring mutational sites of genes corresponding to respiratory system
  • Method and device for acquiring mutational sites of genes corresponding to respiratory system
  • Method and device for acquiring mutational sites of genes corresponding to respiratory system

Examples

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no. 1 example

[0032] The embodiment of the present application provides a method for obtaining a mutation site of a gene corresponding to the respiratory system, which is used to obtain the base mutation status of the mutation site of a gene related to the respiratory system in the gene to be tested. See figure 2 , the method includes:

[0033] Step S110: Compare multiple short sequences of the gene to be tested with the reference genome to obtain preliminary mutation site information of the gene to be tested, and the preliminary mutation site information includes mutation bases of multiple preliminary mutation sites And the position information of each preliminary mutation site.

[0034] First, multiple short sequences of the gene to be tested are obtained, which can be output through a second-generation sequencing platform. Align the short sequence of the gene to be tested with the reference genome. For example, if the gene to be tested is a human gene, the reference genome is a human...

no. 2 example

[0108] This embodiment provides a device 200 for acquiring mutation sites of genes corresponding to the respiratory system, please refer to Figure 4 , the device 200 includes:

[0109] The comparison module 210 is used to compare the data of multiple short sequences of the gene to be tested with the reference genome to obtain preliminary variation site information of the gene to be tested, and the preliminary variation site information includes a plurality of preliminary variation sites The mutated bases and the position information of each preliminary mutated site.

[0110] The filtering module 220 is used to delete the variable sites that do not meet the preset retention conditions among the multiple preliminary variable sites according to the preliminary variable site information, and delete the variable sites in the gene to be tested obtained after deletion as the detection point.

[0111] The comparison module 230 is used to compare the site to be detected with a plura...

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Abstract

The invention provides a method and a device for acquiring mutational sites of genes corresponding to a respiratory system, and relates to the technical field of biological information. The method comprises the following steps: carrying out data comparison on a plurality of short sequence and reference genome of genes to be tested to obtain the initial mutational site information of the genes to be tested; according to the initial mutational site information, deleting mutational sites which do not meet a preset reservation condition in a plurality of initial mutational sites, wherein the mutational sites, in the genes to be tested, obtained after deletion are taken as sites to be tested; comparing the sites to be tested with a plurality of mutational sites of the genes corresponding to the respiratory system in a respiratory system gene bank; and when the mutational site of which the position and mutation basic group are the same as the site to be tested exists in the respiratory system gene bank, obtaining the site mutation condition of the genes corresponding to the respiratory system in the genes to be tested. According to the method and the device, the mutation condition of a plurality of mutational sites relevant to the respiratory system in the mutational sites in the genes to be tested can be obtained.

Description

technical field [0001] The present application relates to the field of biological information technology, and in particular, to a method and device for obtaining mutation sites of genes corresponding to the respiratory system. Background technique [0002] With the development and maturity of medicine, genomics and high-throughput sequencing technology, precision medicine (Precision Medicine) is also applied in countries around the world, becoming a new medical model. Precision medicine is a medical method for disease prevention and treatment that takes into account the differences in personal genes, environment and living habits, and formulates personalized and precise medical and health management plans based on each person's genetic information. [0003] The genetic background of each person is different. In this process, it is necessary to determine the mutation of each person's genome or some genes associated with the corresponding organ or location, so that further ana...

Claims

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Application Information

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IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 范振鑫郭涛
Owner 成都鑫云解码科技有限公司