[ensembl-dev] GWAS-catalog result exclusion

[andrew126 at mac.com]

Hi Laurent,

Thanks for confirming and preparing a fix!

Best,

Andrew

> On Nov 9, 2016, at 8:46 AM, Laurent Gil <lgil at ebi.ac.uk> wrote:
> 
> 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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> 
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