[ensembl-dev] [VEP] Bug stripping REF/ALT alleles ?

João Eiras joao.eiras at gmail.com
Sat Jul 15 01:24:37 BST 2017


On 14 July 2017 at 15:38, William McLaren <wm2 at ebi.ac.uk> wrote:
> As the documentation for -minimal mentions you should use -allele_number to
> track alleles from input to output.
>

Can I suggest --minimal implying --allele_num ? Or rather, I think
allele_num should always be enabled since it's much more reliable that
trying to parse "variant_allele" or "codons"

> As you note for your example the ALT will be “-“ in all cases, but the
> start/end coordinates used to calculate the consequences will be different.
>
> It’s a matter of opinion unfortunately whether -minimal should be the
> default or not; we err on the side of trying not to confuse users too much
> by making it not the default. It’s something that could be up for
> consideration for change in the future, though.

That's fine by me, and I do think the output should resemble the input
as much as possible.

However, stripping the ref or not should NOT affect the result of the
annotation.

Thank you so much for your time !



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