ga4gh / vrs

Extensible specification for representing and uniquely identifying biological sequence variation
https://vrs.ga4gh.org
Apache License 2.0
78 stars 32 forks source link

Inconsistent genotype.count definitions #424

Open d-cameron opened 1 year ago

d-cameron commented 1 year ago

"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.

github-actions[bot] commented 5 months ago

This issue was marked stale due to inactivity.