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Illumina / Nirvana

The nimble & robust variant annotator
https://illumina.github.io/NirvanaDocumentation/
GNU General Public License v3.0
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SpliceAI data missing from Supplementary Annotations #105

Closed kmurphy902 closed 1 year ago

kmurphy902 commented 1 year ago

The SpliceAI data seems to be missing from the download (see attached log from running this morning). The command I used was:

dotnet --roll-forward Major bin/Release/net6.0/Downloader.dll --ga both -o Data

nirvana_download_both_log.txt

I have also confirmed that SpliceAI scores are not in the output json.

rajatshuvro commented 1 year ago

Hi @kmurphy902 , SpliceAI is not available for the open source user. I am sorry for the inconvenience.

Best