[ensembl-dev] Another multi-allelic issue

[Will McLaren]

Sure, done!

Will

On 3 August 2016 at 18:13, Konrad Karczewski <konradk at broadinstitute.org>
wrote:

> Hi Will,
>
> Great, thanks! Do you mind patching 81 as well? Would like to do some
> comparisons in ExAC.
>
> Thanks!
> -Konrad
>
> On August 3, 2016 at 6:03:09 AM, Will McLaren (wm2 at ebi.ac.uk) wrote:
>
> Thanks Konrad, this should be fixed on 85 now. I can patch previous
> releases too if you're using an older one?
>
> AGG->AG and AGG->A both resolve to a deletion, and internally things were
> being keyed on the resolved ALT, which in both cases was "-" even though
> they were deleting different things...
>
> Will
>
> On 3 August 2016 at 06:15, Konrad Karczewski <konradk at broadinstitute.org>
> wrote:
>
>> Hi Will, Ensembl folk,
>>
>> When annotating ExAC (yet again...), I found another issue with
>> multi-allelics. The following variant:
>>
>> 20 31022441 . AGG AGGG,AG,TGG,A
>>
>> only gets 3 alleles annotated (15 total annotations, with 5 overlapping
>> transcripts), and the final allele (AGG->A) appears to not get annotated.
>>
>> Seems to persist all the way up to v85. Any ideas why this might be the
>> case?
>>
>> Thanks!
>> -Konrad
>>
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