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!
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
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bcftools norm -m-snps dbSNP153.hg19.vcf -Ov -o dbSNP153.hg19.norm.vcf