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

Open shahamer opened this issue 1 year ago • 1 comments

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

shahamer avatar Apr 29 '24 20:04 shahamer

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 avatar Apr 30 '24 08:04 pd3