Coverting missing sites to reference allele using Bcftools isn't working.
I am trying to set the missing GT = . to 0|0 but while using bcftools I end up only with GT as single 0 in all the missing sites for all the samples.
Initial VCFs:
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT MA605 MA611 MA622 MA625 MA629 Ncm8 Sp154 Sp164 Sp21 Sp3 Sp76 SpNor33 ms01e ms02g ms03g ms04h
1 141 . C T . . . GT:PG:PG_al:PI . . . 0|1:0|1:C|T:10763 . . . . . . . . . . . .
My script:
bcftools +setGT phasedVCF-short02.vcf.gz -- -t . --new-gt 0p > phasedVCF-short03.vcf
Filled 110671 alleles
bcftools +setGT phasedVCF-short02.vcf.gz -- -t . --new-gt 0p\n > phasedVCF-short03.vcf
bcftools +missing2ref phasedVCF-short02.vcf.gz -- -p > phasedVCF-short03.vcf
All these methods are giving the Output VCF:
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT MA605 MA611 MA622 MA625 MA629 Ncm8 Sp154 Sp164 Sp21 Sp3 Sp76 SpNor33 ms01e ms02g ms03g ms04h
1 141 . C T . . . GT:PG:PG_al:PI 0:.:.:. 0:.:.:. 0:.:.:. 0|1:0|1:C|T:10763 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:. 0:.:.:.
I thought if something was wrong with my VCF, so downloaded VCF file over the internet to test. And I am getting the same exact result.
This is weired. What is the issue here ?
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Hello,
as your missing genotype are just set to . bcftools assume that you have a monoploidy GT. So to get 0|0 you first have to set the correct ploidy.
$ bcftools +fixploidy phasedVCF-short02.vcf.gz -- -f 2|bcftools +missing2ref - -- -p > phasedVCF-short03.vcf
fin swimmer
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