Yes bcftools merge is good idea. You can also use GATK Combinegvcf. bcftools query - (bcftools query -f '%CHROM %POS[\t%DP\t%AD]\n' ) gaves you DP and AD, and you would be able calculate frequencies. But frequency from all samples - just to get one number like in dbSNP. What about one genotype divide sum of other genotypes?
Calculate allele frequency from many VCF files in specific locus
Dear all,
I have 100 VCF files (100 different samples). I would like to calculate allele frequency in specific sites.
In one specific locus I have three genotypes (GATK best practices workflow):
rs-xxxxx:
A/A occurring in 30 samples (ref hom)
A/G occurring in 21 samples (het)
G/G occurring in 49 samples (alt hom)
Frequency of genotype would be:
A/A = 0.3
A/G = 0.21
G/G = 0.49
But how do I calculate allele frequency of A/G ?
dbSNP define this like: (sum of chromosome counts over all member) / (total chromosome counts over all member)
Thank you for any educative example.
Paul.
• 5,196 views
•
link
1 answer
use bcftools merge to combine your vcf at this position and extract the INFO/AF field with bcftools query
• 0 views
•
link
• 0 views
•
link
Log in to answer this question.
hello, I am also lost in finding the solution for this, can u please suggest me how to go about it?