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VCF GT feild

What does below mean in GT field of VCF:

0/0
0/1   
1/1
1/0

How are they related to REF and ALT fields and other fields?

Thanks, Ray

vcf sequencing

1 answer

see my earlier answer A: VCF Files: Help on 0/1 1/1 0/0 1/1 | vs / (phased & unphased

GT genotype, encoded as alleles values separated by either of ”/” or “|”, e.g. The allele values are 0 for the reference allele (what is in the reference sequence), 1 for the first allele listed in ALT, 2 for the second allele list in ALT and so on. For diploid calls examples could be 0/1 or 1|0 etc. For haploid calls, e.g. on Y, male X, mitochondrion, only one allele value should be given. All samples must have GT call information; if a call cannot be made for a sample at a given locus, ”.” must be specified for each missing allele in the GT field (for example ./. for a diploid). The meanings of the separators are:

/ : genotype unphased 
| : genotype phased
  

Can you please explain little bit more?

can you please tell us what you don't understand.

0/0 - the sample is homozygous reference

0/1 - the sample is heterozygous, carrying 1 copy of each of the REF and ALT alleles

1/1 - the sample is homozygous alternate

What about 1/0?

1/0 is heterozygous too, it has the very same meaning than 0/1.

on the other hand

1|0 is not the same than 0|1 because genotypes are phased (the homologous chromosome is identified)

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