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Update gnomad v4.1 sub populations in relevant places #1756

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merged 5 commits into from
Sep 23, 2024

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nakib103
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@nakib103 nakib103 commented Sep 18, 2024

We have updated gnomAD to v4.1 - https://www.ebi.ac.uk/panda/jira/browse/ENSVAR-6286

It has two sub-population name updates -

  • gnomade oth --> gnomade remaining
  • gnomadg oth --> gnomadg remaining

And one new sub population -

  • gnomade mid

This change needs to be reflected where we have this information stored in VEP -

  • in Constants.pm where we define fields and their header description
  • in OutFactory.pm and OutputFactory/JSON.pm where we put what fields to expect from gnomad frequency

Test

REST

grch38 -
genomes - http://wp-np2-11:7075/vep/human/id/rs1603308226?content-type=application/json
exomes - http://wp-np2-11:7075/vep/human/id/rs2124485780?content-type=application/json

grch37 -
genomes - http://wp-np2-11:7075/vep/human/id/rs7892850?content-type=application/json
exomes - http://wp-np2-11:7075/vep/human/id/rs2124485742?content-type=application/json

CLI

vep --id "Y 2781716 rs1603308226 T C" --cache <cache_dir> --fasta <fasta> --offline --force --everything

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Works as expected for grch37 and grch38. Thanks @nakib103

@nakib103 nakib103 merged commit fcc5262 into Ensembl:postreleasefix/113 Sep 23, 2024
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merged to main and release/113

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2 participants