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Using dbNSFP4.6_gene.gz as annotation source #694

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GACGAMA opened this issue Feb 22, 2024 · 1 comment
Open

Using dbNSFP4.6_gene.gz as annotation source #694

GACGAMA opened this issue Feb 22, 2024 · 1 comment
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@GACGAMA
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GACGAMA commented Feb 22, 2024

Hi everyone
I'm trying to use the dbNSFP4.6_gene.gz as an annotation source to get some spefic data such as Gene_name, Pathways and Entrez_gene_ID/MIM_phenotype.
But the file is very different from the dbNSFP variant annotation, which contains chr start end positions.
The dbNSFP contains gene name and ensembl gene id.
Is there any way to annotate using the dbNSFP_gene?

@jamie-m-a jamie-m-a self-assigned this Feb 23, 2024
@jamie-m-a
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jamie-m-a commented Feb 23, 2024

Hi @GACGAMA

Yes we currently don't utilise that file, the dbNSFP plugin works on the _variant files. We don't currently have an out of the box solution for using that file (though you are welcome to write something and make a pull request to our plugin repo!). The GO plugin uses similar data and may be a suitable alternative in the meantime.

I'm tagging @nuno-agostinho as he's worked on the GO and dbNSFP plugins and may be interested in adding this functionality in future.

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