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Duplication of SNPs when uploading template in Curation app for GCST90085780

Open ar-ibrahim opened this issue 2 years ago • 7 comments

SNP entries are duplicated when uploading template in Curation app. This consistently occurs even when using a new template for the upload.

image

https://www.ebi.ac.uk/gwas/curation/studies/95477043/associations

ar-ibrahim avatar May 06 '22 11:05 ar-ibrahim

@ar-ibrahim does this still need attention or did you manage to resolve it?

ljwh2 avatar Jun 28 '22 16:06 ljwh2

I tried uploading a new template. I also tried entering the association manually. It's still duplicated every time. I checked the other studies in this PMID. This seems to happen only with this study. I tried to manually edit the row after uploading the association but the page keeps timing out.

Would it be possible to delete this study and make a new submission?

ar-ibrahim avatar Jun 29 '22 08:06 ar-ibrahim

Screenshot 2022-07-04 at 14 16 31

Might be a mapping issue. L.H. suggested that it might be an out-of-date variant.

ar-ibrahim avatar Jul 04 '22 13:07 ar-ibrahim

Seems this particular variant produces duplicate mappings. Noting this is a variant ID that was merged a long time ago, although this doesn't normally cause a problem as far as I know https://www.ncbi.nlm.nih.gov/snp/rs115094736 @sprintell could you please check what is going on in the mapping pipeline for this variant?

ljwh2 avatar Jul 04 '22 14:07 ljwh2

This issue also affected a second example: rs199679345

eks-ebi avatar Feb 28 '24 10:02 eks-ebi

It seems that the variants that cause problems also have alternative rsIDs that point to the same variant.

These appear like this in the GWAS Catalog search results:

Screenshot 2024-02-28 at 10.18.47.png

Could this be somehow causing the variant to be retrieved twice?

eks-ebi avatar Feb 28 '24 10:02 eks-ebi

Note, this study is now published and available in production, with the SNP duplicated

ljwh2 avatar Mar 27 '24 13:03 ljwh2