How is allelle frequency calculated ?
1
1
Entering edit mode
3.9 years ago
DareDevil ★ 4.3k

How is allelle frequency calculated ?

This a variation where Allelle Frequency (AF) is 0.500 and AD = 57,36 and DP = 93

My understanding about AF calculation is 36 / 93 = 0.387096774

chr1    976215  rs7417106   A   G   687.60  .   AC=1;AF=0.500;AN=2;BaseQRankSum=0.978;DB;DP=93;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=7.39;ReadPosRankSum=1.018;SOR=0.666    GT:AD:DP:GQ:PL  0/1:57,36:93:99:695,0,1225
vcf allelle frequency exome • 1.2k views
ADD COMMENT
2
Entering edit mode
3.9 years ago

One diploid genotype.

total number of alleles AN= n-genotypes * ploidy = 2

total number of ALT alleles AC= samples is HET (0/1) = 1

alllele frequency AF= AC/AN = 1/2 = 0.5

AD and DP are unrelated to AF.

ADD COMMENT
0
Entering edit mode

@Pierre Lindenbaum Thanks for the quick reply!!.

But if you look at this post, they mention about AD and DP for calculating AF

ADD REPLY
0
Entering edit mode

they mention about AD and DP for calculating AF.

and what is the conclusion of the post you mentioned ?

ADD REPLY
0
Entering edit mode

there is no precised conclusion there. But if you look at these following post here and here. They mention about relating AD and DP in calculating varint allelle frequncy

ADD REPLY
0
Entering edit mode

add VAF or FREQ in vcf file from read depth and Calculation of VAF (variant allele frequency) are about VARIANT allele frequency NOT **allele frequency'

ADD REPLY
0
Entering edit mode

Thanks.. Little confused with the terms

ADD REPLY

Login before adding your answer.

Traffic: 1952 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6