Table 5. Overall correlation rates between SpliceAI-predicted and experimentally demonstrated functional effects of the GT>GC variants in the context of three datasets*.
| Variants Generating Wild-type Transcripts | |
|---|---|
| Dataset 1 (45 disease-causing variants) | 43% (3/7) |
| Dataset 2 (103 variants analyzed by FLGSA) | 84% (16/19) |
| Dataset 3 (12 BRCA1 variants analyzed by saturation genome editing) | 33% (1/3) |
| Variants Generating No Wild-type Transcripts | |
| Dataset 1 (45 disease-causing variants) | 89% (34/38) |
| Dataset 2 (103 variants analyzed by FLGSA) | 68% (57/84) |
| Dataset 3 (12 BRCA1 variants analyzed by saturation genome editing) | 67% (6/9) |
*Splice AI Delta score (donor loss) of 0.85 was used as the threshold value for defining the generation of wild-type transcripts or not.