[ensembl-dev] Variation (VEP) - Het/Hom Output

Will McLaren wm2 at ebi.ac.uk
Thu May 17 13:14:17 BST 2012


Hello,

I'm not sure I follow you exactly - do you have, for example, a VCF
file containing individual genotypes which you would like the VEP to
report if they are het or hom?

Or is it some property of existing variation data (e.g. rsIDs from
dbSNP) you are interested in?

Currently the VEP can't report this kind of thing, but if I could
better understand what it is you want I may be able to suggest some
alternatives.

Also, are you using the script or the web interface to the VEP?

Thanks

Will McLaren
Ensembl Variation

On 17 May 2012 11:59, Ricardo Parolin Schnekenberg
<ricardos at well.ox.ac.uk> wrote:
> Hello Dev Team,
>
> I wonder if it is possible for VEP to output if the variant is
> heterozygous or homozygous? I know Annovar has a column with this result,
> but I can't seem to find something similar in VEP. Is there a way to do
> it?
>
> Thanks a lot,
>
>
> --
> Ricardo Parolin Schnekenberg
> Genomics Research
> Wellcome Trust Centre for Human Genetics
> University of Oxford
>
>
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