在1000genome的FTP服务器上可以下载一个all的vcf文件，里面可以看到AFR, AMR, EAS, EUR, SAS人群的allele频率，但是该种族下面的亚群的频率信息需要在http://grch37.ensembl.org搜索得到，比如 http://grch37.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=1:230845294-230846294;v=rs699;vdb=variation;vf=102788013 ，还有一种方式，就是下载包含所有样本的突变信息的VCF文件，利用vcftools计算。

The allele frequency of super population (AFR, AMR, EAS, EUR, SAS, see http://www.1000genomes.org/category/population/) can be obtained from all.vcf.

However, the allele population frequency in subpopulation is not well obtained.

One way is search the web http://grch37.ensembl.org by rs identifier, E.g. http://grch37.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=1:230845294-230846294;v=rs699;vdb=variation;vf=102788013 .

Another way is calculated on your local machine. The following will introduce how to get allele frequency of CHB population in chr1 chromosome. CHB Han Chinese in Beijing

Prepare file and software dependency

panel file contains sample information

panel file: integrated_call_samples_v3.20130502.ALL.panel

vcf file contains allele information of all samples

chr1.vcf: ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf

Also, you should install vcftools.

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wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/integrated_call_samples_v3.20130502.ALL.panel
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz
git clone https://github.com/vcftools/vcftools.git
cd vcftools/ 
./autogen.sh 
./configure 
make 
make install
cd ..

Calculate allele frequency of CHB population

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grep CHBintegrated_call_samples_v3.20130502.ALL.panel ' cut -f1 > CHB.samples.list
vcf-subset -c CHB.samples.list ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz ' fill-an-ac ' bgzip -c > CHB.chr1.phase1.vcf.gz 
# Once you have this file you can calculate your frequency by dividing AN (allele number) by AC (allele count)
# or continue, vcftools --freq option will generate a .fre file
vcftools --gzvcf CHB.chr1.phase1.vcf.gz --freq --out CHB

Result

head CHB.frq 
CHROM   POS     N_ALLELES       N_CHR   {ALLELE:FREQ}
1       10177   2       206     A:0.660194      AC:0.339806
1       10235   2       206     T:1     TA:0
1       10352   2       206     T:0.572816      TA:0.427184
1       10505   2       206     A:1     T:0
1       10506   2       206     C:1     G:0
1       10511   2       206     G:1     A:0
1       10539   2       206     C:1     A:0
1       10542   2       206     C:1     T:0
1       10579   2       206     C:1     A:0

Because every sample has two chromosomes, so N_CHR = N_sample * 2

Reference:

Population structure

http://www.1000genomes.org/category/population/

http://www.1000genomes.org/faq/how-can-i-get-allele-frequency-my-variant/

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#Author: Jason

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Get the allele frequency of 1000 Genome subpopulation

文章目录

Prepare file and software dependency

Calculate allele frequency of CHB population

Result