harrispopgen / mutyper

Ancestral k-mer mutation types for SNP data
https://harrispopgen.github.io/mutyper/
MIT License
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New GATK missing genotype annotation #50

Open wsdewitt opened 7 months ago

wsdewitt commented 7 months ago

As of GATK 4.2.3.0 (September 2023), missing genotypes in VCFs are coded as 0/0 instead of ./., and missingness is indicated in the FORMAT DP field.

This is likely a breaking change for mutyper's mutation spectrum processing, so should be assessed and hopefully fixed. It's not clear to me if cyvcf2 (which we use for VCF parsing) has been updated to handle this.

See: https://gatk.broadinstitute.org/hc/en-us/articles/6012243429531-GenotypeGVCFs-and-the-death-of-the-dot