PLINK2 handle NON_REF in ALT allele column of VCF

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Gourab Saha

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Mar 12, 2026, 11:15:10 AM (5 days ago) Mar 12
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Hi,

I am new to PLINK. The merged VCF I am using contains some rows with NON_REF calls in the ALT allele. For the same row GT value is 0/0. Does PLINK consider those calls as homozygous reference or it excludes those from analysis?



Thanks
Gourab
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Chris Chang

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Mar 13, 2026, 10:49:21 AM (4 days ago) Mar 13
to Gourab Saha, plink2-users
There is no special handling of "NON_REF" allele codes; they are treated as homozygous reference.

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Gourab Saha

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Mar 16, 2026, 1:08:21 AM (yesterday) Mar 16
to plink2-users
Thank you so much for quick answer.

In that regard i have another doubt. 

Currently I am merging my VCF files using BCFtools. But BCFtool is treating those NON_REF as a variant and recording corresponding 0/0 genotype. With PLINK2 can I merge vcf files as --bmerge option is not there? If yes which function do that and as you mentioned in this case PLINK2 wont treat NON_REF as a individual variant at that position right?

I know this sound little complex. It would be great help if you give a resolution to this.


Thanks 
Gourab 
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