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Illumina / Nirvana

The nimble & robust variant annotator
https://illumina.github.io/NirvanaDocumentation/
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How to update GRCh38 databases #70

Closed geocarvalho closed 2 years ago

geocarvalho commented 2 years ago

Hello team, thank you for your work here. I'm using Nirvana v.3.17.0 and GRCh38 databases

$ bin/Release/netcoreapp3.1/Nirvana.dll --version
Nirvana 3.17.0 Cache version: 27, Supplementary annotation version: 63, Reference version: 7

The VEP database is quite old:

{
        "name": "VEP",
        "version": "91",
        "description": "BothRefSeqAndEnsembl",
        "releaseDate": "2017-12-18"
}

There is a new database for download or any way I could update it myself?

Best, George.

rajatshuvro commented 2 years ago

Hello @geocarvalho , We are currently working on updating RefSeq to a recent release. Our 3.2.6 already has that. But please be advised that the Supplementary annotations for 3.2.6 are quite old.

geocarvalho commented 2 years ago

Thank you @rajatshuvro, but I couldn't find the links to download the GRCh38 databases for v3.2.6, there is a link for that? Another thing is if there is any possibility of updating or adding new databases myself?