Laura Harris

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Unknown why these did not get mapped. Repeat analysis after next remapping.

I have reanalysed the data after the 20 Dec release. At step 8, 141 SNPs were found in Ensembl but do not have mapping in the download file. See attached...

Since we know the issue with patch locations should be fixed in the next Ensembl release, I suggest we don't do anything about those, but it would be worth investigating...

There are still many valid SNPs without mapping in the latest release (538 rsIDs). 469 of these had mapping in the previous release that I analysed (in Dec). I’m struggling...

Results from DR 2024-03-11: There are 3236 potentially mappable rsIDs. Of these only 124 are valid in Ensembl but have no mapping in the Catalog. I did some manual check...

Of the 124 SNPs: 58 got successfully mapped in the second round 53 exist in Ensembl with no mapping information 12 have only a patch location One remains that could...

@sajo-ebi to add better error logging. We need to be able to distinguish when Ensembl API returns blank response compared to SNP not found.

Ideally, the changes should only be reflected upon full data release, such that the data exposed in spotpub is in sync with the data in the yaml files.

@sprintell is this now done? If not achievable in this sprint, please move to product backlog