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Comments (6)

eroller avatar eroller commented on June 29, 2024

Would P even make sense for INFO column? I think maybe P should only be valid for FORMAT fields where a sample has a defined ploidy so it should just be defined in the Genotype section. Some samples may be triploid some may be diploid for the same reference genome. Specifically, P is the number of alleles in the FORMAT/GT field.

On a related note, should this FORMAT field have Number=P rather than Number=1?:
##FORMAT=<ID=HAP,Number=1,Type=Integer,Description="Unique haplotype identifier">
and can this be used to link phased haplotypes from multiple records? I'm thinking of using this FORMAT/HAP field to identify star alleles for PGx with multiple VCF records across a gene.

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jmarshall avatar jmarshall commented on June 29, 2024

Note that this P is used in the current VCFv4.4 specification for the PSL, PSO, and PSQ genotype fields (though these may not yet have seen widespread use), and has been suggested as being appropriate for some of LAA/LAD/LGT (cf #434).

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d-cameron avatar d-cameron commented on June 29, 2024

Added FORMAT P definition to VCF 4.5. No INFO P though as VCF make no assumptions about ploidy outside of GL. Use a . or a fixed number (e.g. Number=2 for diploid) if the ploidy is known.

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d-cameron avatar d-cameron commented on June 29, 2024

TODO: errata 4.4 to change P to . since it wasn't properly defined.

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jmarshall avatar jmarshall commented on June 29, 2024

…or add the definition of P to the 4.4 spec. Pros and cons on both sides; IMHO it's best for the 4.4 and 4.5.draft specs to say the same thing for PSL/PSO/PSQ.

Possibly also add a reference to this to the errata or changelog sections.

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d-cameron avatar d-cameron commented on June 29, 2024

Let's go with defining Number=P and explicitly listing it as an errata in Section 7.

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