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Method and device for acquiring mutation sites of genes corresponding to endocrine and metabolism system

A metabolic system and gene locus technology, applied in the field of gene mutation site acquisition, can solve problems such as the limited number of mutation sites, the inability to determine the mutation status of the mutation sites at the same time, and the deviation of prediction results.

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 gene site in the endocrine and metabolic system 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 method is Limited, usually only the mutation of one or a few bases can be obtained, and the mutation of as many mutation sites as possible in the gene corresponding to the endocrine and metabolic system in the gene to be tested cannot be determined at the same time, so that the subsequent combination There may be large deviations in the prediction results of other information on the prevalence of endocrine and metabolic diseases

Method used

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  • Method and device for acquiring mutation sites of genes corresponding to endocrine and metabolism system
  • Method and device for acquiring mutation sites of genes corresponding to endocrine and metabolism system
  • Method and device for acquiring mutation sites of genes corresponding to endocrine and metabolism system

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no. 1 example

[0032] The embodiment of the present application provides a method for obtaining a gene mutation site corresponding to the endocrine and metabolic system, which is used to obtain the base mutation status of the mutation site of the gene related to the endocrine and metabolic 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 location 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 refere...

no. 2 example

[0108] This embodiment provides a device 200 for acquiring gene mutation sites corresponding to the endocrine and metabolic systems, 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 wit...

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Abstract

The invention provides a method and a device for acquiring mutational sites of genes corresponding to an endocrine and metabolism 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 to obtain sites to be tested; comparing the sites to be tested with a plurality of mutational sites of the genes corresponding to the endocrine and metabolism system in an endocrine and metabolism 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 endocrine and metabolism system gene bank, obtaining the site mutation condition of the genes corresponding to the endocrine and metabolism 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 endocrine and metabolism 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 acquiring gene mutation sites corresponding to endocrine and metabolic systems. 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 furthe...

Claims

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Application Information

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