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KarchinLab / open-cravat

A modular annotation tool for genomic variants
MIT License
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genebass data source #68

Closed cariaso closed 1 year ago

cariaso commented 3 years ago

https://genebass.org/ seems like a worthy annotation source with a permissive license https://genebass.org/terms and bulk download available from https://genebass.org/downloads

example results https://genebass.org/gene/ENSG00000130203?burdenSet=pLoF&phewasOpts=1&resultLayout=full

rkimoakbioinformatics commented 3 years ago

Thanks. We'll take a look.

kmoad commented 1 year ago

Currently this database is too large to include in OpenCRAVAT. We are working on ways to either better compress annotator data, or support fast querying of external resources. Genebass does seem like an excellent data source.