Splicing Models: SpliceAI and AlphaGenome
Splice Signal Refresher
Canonical motifs:
- Donor (5' splice site): usually
GT - Acceptor (3' splice site): usually
AG
Delta Score Framework
Four SpliceAI delta scores (range 0–1):
DS_DG: donor gain — variant creates a NEW donor siteDS_DL: donor loss — variant weakens an existing donorDS_AG: acceptor gain — variant creates a NEW acceptor siteDS_AL: acceptor loss — variant weakens an existing acceptor
Thresholds
[Description truncada. Veja o README completo no GitHub.]