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How GATK pipeline called a homozygeous alternate allele (1/1) although one copy is supported by 0 reads ?

I have annotated SNPs using GATK, and have observed that in many 1/1 SNP sites (homozygeous alternate) the whole read depth (stated in DP) are supporting the the alternate allele (as seen in the AD field), while the reference allele is supported by 0 reads. So how GATK called this ref allele if there is no reads supporting it.

Example:

Example

snp gatk

I've removed irrelevant tags from your post.

So how GATK called this ref allele if there is no reads supporting it

it didn't call it reference. it called it hom_alt. where in your figure do you think it called it reference?

1 answer

Ref alleles are from the reference genome. GATK doesn't need a read supporting the ref genome on a sample to know what the ref base is at a location.

Sure, but n my case 1/1 the allel is different from the reference allele and it called it as T, for instance. So it needs reads in the sample to support that. Also i have seen for many of 0/1 genotype a read for the reference allele ?

I don't understand what you're saying. Your allele is different from the ref allele so it needs the sample to support that? Why?

Give me the following details please:

  1. Organism
  2. Genome version used
  3. Chr and Position
  4. Ref allele
  5. Alt allele
  • Organism: gallus gallus
  • Genome version used: GRCg6a
  • Chr and Position: NC_006113.5, 24618
  • Ref allele: A
  • Alt allele: G
  • Genotype: 1/1 (G/G)

So my understanding is that there should be sequenced reads (from ones sample) that support the two copy (allele) of the position. and the n of these reads is written in the field AD in VCF file. Also the field DP is the total read depth supporting that variant. Do you mean that because it is 1/1, so both copies is different from the reference and that is why the 0 in the AD is because no reads is saying that any of these copies at that position is similar to the reference?

Do you mean that because it is 1/1, so both copies is different from the reference and that is why the 0 in the AD is because no reads is saying that any of these copies at that position is similar to the reference?

Yes, you nailed it.

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