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Inconsistent genotype.count definitions #424

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d-cameron opened this issue May 4, 2023 · 1 comment
Open

Inconsistent genotype.count definitions #424

d-cameron opened this issue May 4, 2023 · 1 comment

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@d-cameron
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"The genotype.count attribute explicitly captures the total count of molecules associated with a genomic locus represented by the Genotype."

This definition is problematic when there are genomic rearrangements. For example, a tandem duplication will cause the duplicated region to be triploid so I would have assumed that I could use genotype.count=3 for SNVs and indels within this duplicated region. Unfortunately, the definition of genotype.count defines in terms of molecules thus genotype.count=2 is required since there's still only two relevant molecules for the tandem duplication. The defining table defines genotype.count in terms of abundance but the above-quoted clarifying text uses a different, inconsistent definition.

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github-actions bot commented Jan 9, 2024

This issue was marked stale due to inactivity.

@github-actions github-actions bot added the Stale See .github/workflows/stale.yml label Jan 9, 2024
@ahwagner ahwagner removed the Stale See .github/workflows/stale.yml label Jan 9, 2024
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