[ensembl-dev] GWAS-catalog result exclusion
Laurent Gil
lgil at ebi.ac.uk
Wed Nov 9 13:46:11 GMT 2016
Dear Andrew,
You are right: there should be 2 association results for rs11726248.
Thank you for spotting this!
The reason is simply because we didn't expect the case where there are
more than 1 association in the NHGRI-EBI GWAS Catalog with the same
rsID, phenotype and study in our import pipeline. This was mainly done
to avoid having duplicated records in Ensembl.
We are going to fix this issue.
Best regards,
Laurent
Ensembl Variation
On 02/11/2016 07:46, andrew126 at mac.com wrote:
> Hi,
>
> I have noticed the following via the release-86 API, but it appears to pertain to Ensembl's data curation in general.
>
> In the NHGRI-EBI GWAS catalog, c has two association results (both are to the same phenotype, but to different samples (both sexes vrs. female-only)):
>
> https://www.ebi.ac.uk/gwas/search?query=rs11726248
>
> However, Ensembl has curated only one of these results:
>
> http://useast.ensembl.org/Homo_sapiens/Variation/Phenotype?db=core;r=4:170131868-170132868;v=rs11726248;vdb=variation;vf=6751485
>
> Is there a reason the female-only result was excluded from curation?
>
> Thanks for any clarification.
>
> Best,
>
> Andrew
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