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Number of missing genotypes in bcftools stats #2183

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mufernando opened this issue May 13, 2024 · 1 comment
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Number of missing genotypes in bcftools stats #2183

mufernando opened this issue May 13, 2024 · 1 comment

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@mufernando
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Hi,

How does bcftools stat compute number of missing genotypes per sample when presented with a "GATK" VCF (which encodes missingness in the DP field)?

Thanks,

Murillo

@pd3
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pd3 commented May 15, 2024

I am guessing your question is related to the bizarre GATK decision discussed also here samtools/hts-specs#756?

Missing genotypes are recognized by GT=. or GT=./., not by the DP or any other field. The assertion made in GT can come from various experiments where DP may not even be defined.

Note there are the -i/-e filtering options and the +setGT plugin (http://samtools.github.io/bcftools/howtos/plugin.setGT.html) which can be used to control which genotypes should be counted.

@pd3 pd3 closed this as completed May 15, 2024
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