Comments (6)
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.
from hts-specs.
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).
from hts-specs.
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.
from hts-specs.
TODO: errata 4.4 to change P
to .
since it wasn't properly defined.
from hts-specs.
β¦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.
from hts-specs.
Let's go with defining Number=P and explicitly listing it as an errata in Section 7.
from hts-specs.
Related Issues (20)
- test/sam: Duplicate aux field tags
- test/vcf: Duplicate contig header record ID
- FAIRsharing Record Query - BED format
- CRAM: Need to improve feature positions description HOT 1
- is `*` better than `\*`? HOT 1
- cram: interpretation of "unmapped" flag in a pseudocode seems incorrect HOT 1
- SVCLAIM: VCF4.4 and backward compatibility with VCF4.3 HOT 1
- How to retrieve the primary alignment for secondary and supplementary reads HOT 8
- Is there a semantic difference between GT=./. and GT=0/0 + GQ=0 ? HOT 15
- cram: Inconsistent descriptions of auxiliary tag types HOT 1
- SA tag CIGAR format
- vcf: Handling structured header records with missing IDs in VCF 4.1/4.2 HOT 1
- bcf: First phasing indicators not set in genotype (GT) value examples
- CSI file is BGZF compressed but this is not mentioned in the CSV1 spec HOT 2
- Questions about third-party use of test data HOT 6
- VCF Draft 4.5 and Modified Bases HOT 27
- VCF4.4 SVLEN requirement across different variant representations HOT 1
- refget: v2 spec for Range header errors does not align with typical usage
- vcf: Invalid unstructured header line in VCF 4.3 example `complexfile_passed_000.vcf` HOT 2
- VCF format: correct representation of complex indels and MNPs HOT 5
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