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Population genetic difference comparison method based on mutation function

A technology of population genetics and difference comparison, applied in the field of bioinformatics

Active Publication Date: 2020-12-15
XIANGYA HOSPITAL CENT SOUTH UNIV
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005]The present invention aims to overcome the imbalance between existing comparison methods and comparison needs, and provides a method based on the calculation of mutation sites that may potentially affect gene function in a population A comparative method for assessing differences in gene function between populations based on the difference in mutation frequency between populations

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  • Population genetic difference comparison method based on mutation function
  • Population genetic difference comparison method based on mutation function
  • Population genetic difference comparison method based on mutation function

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Embodiment Construction

[0037] The invention specifically relates to a method for comparing genetic differences in populations based on mutation function, which is based on comparing the mutation frequency differences between populations at mutation sites that potentially affect gene functions, and thereby assessing the differences in gene function between populations difference, belonging to the technical field of bioinformatics.

[0038] Taking the comparison of gene ABCA1 between Asian populations and African populations (or European populations) as an example, the method for comparing population genetic differences based on mutation function includes the following steps:

[0039] (1) Use the prediction software SIFT and PROVEAN to evaluate the importance of the mutation site on the ABCA1 gene and whether it may affect the function of the gene, and obtain a score for the degree of harm of each mutation.

[0040] (2) Obtain the genetic information of exon regions of African population (AFR) and Eur...

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Abstract

The invention discloses a method for comparing the genetic variation difference aiming at the important function mutation of the population, which comprises the steps of evaluating a mutation functionby using prediction software or an actual function verification test to obtain a set of function mutations and then giving higher weight values to the function mutations; and calculating the gene frequency of a polymorphic site of certain population after genotype information of each individual in the population is obtained by utilizing a second-generation sequencing technology or a genotyping technology such as an SNP chip, so that the difference degree of genetic polymorphism taking a gene as a unit among races can be calculated in batches by utilizing a calculation formula of the method. According to the method, a genetic unit rises from a single polymorphic site to a single gene, so that the difference degrees of all functional mutations of a certain gene among different populations can be compared to predict the difference of some gene-related phenotypes among different populations and guide the development of gene-related genetic research among different populations.

Description

technical field [0001] The present invention specifically relates to a method for comparing genetic differences in populations based on mutation function. The method is based on calculating the difference in mutation frequency between populations at mutation sites that potentially affect gene function, and thereby assessing the difference in gene function between populations. The difference belongs to the field of bioinformatics technology. Background technique [0002] With the popularization of next-generation sequencing, more and more genetic data are produced in large quantities. In the context of big data, there are more and more studies comparing the differences in genetic material of different ethnic groups. For the gene comparison of different populations, direct comparison of single mutation sites is commonly used at present. However, the sequence of a gene often contains tens of thousands of base pairs, and the difference in the mutation frequency of one or sever...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/20G16B20/30G16B40/00
CPCG16B20/30G16B20/20G16B40/00
Inventor 尹继业王蕾云郭成贤
Owner XIANGYA HOSPITAL CENT SOUTH UNIV
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