gymreklab / GangSTR

A tool for profiling long STRs from short reads
GNU General Public License v2.0
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REPCN number is incorrect for x chromosome #91

Open LiterallyUniqueLogin opened 4 years ago

LiterallyUniqueLogin commented 4 years ago

REPCN is currently specified as

##FORMAT=<ID=REPCN,Number=2,Type=Integer,Description="Genotype given in number of copies of the repeat motif">

but the number isn't 2 - it's the ploidy of the sample, e.g. 2 for all autosomes and 1 for male non-psuedoautosomal X or Y. The current VCF spec doesn't allow for specifying things based on ploidy, so the number should be '.' and this should be explained in the description.

This might apply to other fields too, but I don't see any off the top of my head.