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Gene name in result list and variant details can differ #2128

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stolpeo opened this issue Nov 25, 2024 · 1 comment
Open

Gene name in result list and variant details can differ #2128

stolpeo opened this issue Nov 25, 2024 · 1 comment
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@stolpeo
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stolpeo commented Nov 25, 2024

Describe the bug
For example for the gene HGNC:25322 - result list displays C12orf29 (previous symbol) while the official name is RLIG1

https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25322

@stolpeo stolpeo added the bug Something isn't working label Nov 25, 2024
@stolpeo
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stolpeo commented Nov 25, 2024

RCA

The annotation of the gene for the variant in the variant details comes from annonars. In the result list, it is joined via the postgres query coming from the RefseqToGeneSymbol/EnsemblToGeneSymbol table. These tables are not up-to-date.

class ExtendQueryPartsGeneSymbolJoin(ExtendQueryPartsBase):

Solution

  1. Either we wait for the next-generation annotation step with mehari.
  2. or we substitute the join of the table with a call to annonars.

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