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verified publisher icon Clinical-Genomics

Add spliceAI annotation

Open pbiology opened this issue 2 years ago • 1 comments

Need

SNV vcfs are annotated using the VEP plugin SpliceAI

Information:
https://github.com/Ensembl/VEP_plugins/blob/release/110/SpliceAI.pm https://pypi.org/project/spliceai/

Suggested approach

Use the VEP module spliceAI with the final vcf files. Similar to how we've added in CADD scores

Considered alternatives

None

Requests/suggestions/bugs solved by the feature

Came in from a user meeting with Emma Tham regarding an unrelated topic

Can be closed when

  • [ ] spliceAI scores are in the final output VCFs

Blockers

pbiology avatar Sep 12 '23 11:09 pbiology

@khurrammaqbool refines this to a general VEP enable plugin issue

pbiology avatar Sep 15 '23 09:09 pbiology