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REPCN number is incorrect for x chromosome #91

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LiterallyUniqueLogin opened this issue Jun 30, 2020 · 0 comments
Open

REPCN number is incorrect for x chromosome #91

LiterallyUniqueLogin opened this issue Jun 30, 2020 · 0 comments

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@LiterallyUniqueLogin
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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.

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