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Upstream deletions and CollectVariantCallingMetrics do not play nice right now.

See original GitHub issue

The current VCF spec allows for a * allele (no brackets):

“The ‘*’ allele is reserved to indicate that the allele is missing due to a upstream deletion.”

CollectVariantCallingMetrics treats this as a third (size 1!!) allele so that in the case of

1   10347   .   TAAACCCTA   T   100 .   AC=2    GT  0/1 0/1
1   10350   .   A           C,* 100 .   AC=3    GT  1/2 0/2

both the 0/2 and 1/2 genotypes in the second line are counted towards TOTAL_MULTIALLELIC_SNPS (for the detailed metrics) Also, both of these genotype will not be counted towards the TOTAL_SNPS (as that only captures bi-alleleic SNPs). So upstream deletions are “hurting” both the monomorphic samples (as they get an inflated TOTAL_MULTIALLELIC_SNPS ) and the polymorphic samples (as they get a deflated TOTAL_SNPS count)

I propose changing this behavior so that an upstream deletion will count as the reference allele for the purpose of metrics.

I will also add a few column or two to capture the number of upstream deletions, perhaps counting the 0/2 separately from the 1/2 genotypes.

Does this sounds reasonable to folks?

@eitanbanks @tfenne ?

Issue Analytics

  • State:open
  • Created 7 years ago
  • Comments:22 (15 by maintainers)

github_iconTop GitHub Comments

yfarjouncommented, Jan 19, 2017

still a thing! on my “todo” list too!

On Wed, Jan 18, 2017 at 8:23 PM, Geraldine Van der Auwera <> wrote:

Is this still a thing or has the relevant work been done/closed?

— You are receiving this because you were mentioned. Reply to this email directly, view it on GitHub, or mute the thread .

yfarjouncommented, Feb 14, 2017

This needs to be put on hold until I modify VariantContext in HtsJdk…

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