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"bcftools norm -m -any" prdocues "." #2173

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shahamer opened this issue Apr 29, 2024 · 1 comment
Open

"bcftools norm -m -any" prdocues "." #2173

shahamer opened this issue Apr 29, 2024 · 1 comment
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htslib-dependent Cannot be fixed until htslib is fixed

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@shahamer
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Hello,
I am running the following command:
bcftools norm -m -any t.vcf

where t.vcf (see also
t.vcf.txt
attached):
##fileformat=VCFv4.2
##contig=<ID=chr1,length=248956422>
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT W1 W2 W3 W4 W5 W6 W7
chr1 15438476 . C T . . . . 0/0 0/1 0/0 0/0 1/1 0/0 0/0
chr1 15438491 . G A,C,T . . . . 0/0 0/1 1/1 1/2 0/2 0/3 1/3

The output is:
##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=chr1,length=248956422>
##bcftools_normVersion=1.13+htslib-1.13+ds
##bcftools_normCommand=norm -m -any t.vcf; Date=Mon Apr 29 23:11:11 2024
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT W1 W2 W3 W4 W5 W6 W7
chr1 15438476 . C T . . . . . . . . . . .
chr1 15438491 . G A . . . . . . . . . . .
chr1 15438491 . G C . . . . . . . . . . .
chr1 15438491 . G T . . . . . . . . . . .

Question:
Why all the mutations have been translated into "."?

Thank you

@pd3
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pd3 commented Apr 30, 2024

The VCF is not formatted correctly, the GT tag is not present in the header and in the FORMAT column, it should look like this

##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT W1 W2 W3 W4 W5 W6 W7
chr1 15438476 . C T . . . GT 0/0 0/1 0/0 0/0 1/1 0/0 0/0

Still, this should be picked up by the parser and an error message should printed.

By the way, the version 1.13 is somewhat old, we are now at 1.20

@pd3 pd3 added the htslib-dependent Cannot be fixed until htslib is fixed label Apr 30, 2024
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