Question: Call missing variants in VCF as reference allele
gravatar for olavur
2.5 years ago by
T├│rshavn, Faroe Islands
olavur100 wrote:

I have many VCFs from different samples. If I merge these into a single VCF using vcftools (vcf-merge), the samples where a variant wasn't called are labeled as missing that variant. Instead, I want the VCF to show that the sample has the reference allele (safe to assume in my application).

Is there a way to call missing variants in a VCF as the reference allele? What tools can I use to do this?


The sequences were originally variant called using FreeBayes (through the LongRanger pipeline).


Turns out I can simply use the --ref-for-missing flag in vcf-merge to achieve this. Problem solved.


Using --ref-for-missing flag in vcf-merge does of course not give the variants any annotation, like depth and genotype quality.

snp vcf genome • 2.0k views
ADD COMMENTlink modified 2.5 years ago • written 2.5 years ago by olavur100
gravatar for Pierre Lindenbaum
2.5 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum127k wrote:

( The best way is to call all the BAMs in the same command, to get a multi-sample VCF)

I've written two tools related to your question:

ADD COMMENTlink written 2.5 years ago by Pierre Lindenbaum127k

I think vcf-merge with the --ref-for-missing flag should solve the problem your VcfNoCallToHomRef solves. Your FixVcfMissingGenotypes tool sounds really useful though.

I didn't try your solution because annotating the depth only isn't enough for me. I accepted the answer anyway, as it solves the problem I stated.

ADD REPLYlink written 2.5 years ago by olavur100
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