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Preparation method of gene chip

A gene chip and chip technology, applied in the field of gene chip preparation, can solve problems such as poor applicability of gene chips

Active Publication Date: 2020-05-08
INSITUTE OF BIOPHYSICS CHINESE ACADEMY OF SCIENCES +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] The purpose of the present invention is to provide a method for preparing a gene chip covering more gene mutation sites, so as to solve the technical problem of poor applicability of the gene chip in the prior art

Method used

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  • Preparation method of gene chip

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Embodiment Construction

[0040] The flowchart of the gene chip of the present invention can be found in figure 1 , and its specific implementation process is:

[0041] This example is based on the whole genome sequencing data of 2641 Chinese with a sequencing depth of 30 times as the basic data set. Using the whole genome sequencing data as the basic data set, the data of the whole genome can be obtained to avoid gene incompleteness affecting the accuracy of the subsequent gene chips. At the same time, because the whole genome sequencing data is high-resolution data, it is convenient to obtain large and small comprehensive the mutation site. In this embodiment, the whole genome sequencing data of Chinese people is used, so as to utilize the genetic variation sites of Chinese people to prepare a gene chip for Chinese people.

[0042] First, the GATK tool is used to extract gene mutation sites from the basic data set to obtain an original data set. The original data set obtained in this example contai...

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Abstract

The invention discloses a preparation method of a gene chip. The preparation method comprises the following steps: acquiring a first data set containing gene variation sites of specified crowds; extracting candidate gene variation sites from the first data set by using secondary allele frequency to form a candidate data set; obtaining a plurality of verification data sets, wherein each verification data set comprises one type of gene variation sites subjected to functional verification; and determining a plurality of chip variation sites based on the candidate data set and the plurality of theverification data sets, wherein the plurality of the chip variation sites form a gene chip. The gene chip prepared by the invention contains multiple types of gene variation sites, so that multiple purposes of one chip are realized, and the applicability of the chip is improved.

Description

technical field [0001] The application relates to a method for preparing a gene chip, which belongs to the technical field of biomedicine. Background technique [0002] With the successful completion of the Human Genome Project, a new era of human health and life science research has opened. The continuous development of biobanks and the maturation of technology have provided rich sample resources and clinical data support for the research of human diseases, especially major chronic diseases. Using gene chip technology to genotype samples and find specific biomarkers through bioinformatics analysis of cohort genetic data has become a powerful technical means for human beings to overcome a series of complex diseases. The precious value of genotyping data obtained through gene chip technology has been increasingly understood and valued by people. Governments and scientific research institutions around the world have invested a lot of resources to carry out genetic analysis of...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/20
CPCG16B20/20
Inventor 徐涛周凯欣王友何顺民陈飞王静
Owner INSITUTE OF BIOPHYSICS CHINESE ACADEMY OF SCIENCES
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