Thanks, makes sense! To answer a bit of my own question, it looks like the sample column would have 1/2 in that case to denote the allele.
Double Alt Heterozygous Variant In Vcf?
Was wondering how VCF denotes a heterozygous variant in which both alleles are different from the reference? E.g.: A to G/T.
I know how to express A > G/A or A > G/G, but wasn't able to find an explanation for the above the spec. I may have also been looking in the wrong place. Thanks in advance!
• 3,536 views
•
link
1 answer
Was wondering how VCF denotes a heterozygous variant in which both alleles are different from the reference? E.g.: A to G/T.
you'll find A in the REF column
and G,T in the ALT column
"ALT : comma separated list of alternate non-reference alleles called on at least one of the samples"
• 312 views
•
link
• 0 views
•
link
Log in to answer this question.
bcftools norm -m-snps: will turn G,T to two lines.
bcftools norm -m+snps: will turn two lines to one line and separte with
,bcftools norm -m-snps dbSNP153.hg19.vcf -Ov -o dbSNP153.hg19.norm.vcf