Table 2.
Likelihood ratio analysis of the maximum SpliceAI Δ score for non-canonical splice site variants using optimal cut-offs.
SpliceAI Δ score | Splice event - No | Splice event - Yes | LR | Low CI | High CI | Evidence strength^ | ||
---|---|---|---|---|---|---|---|---|
n | Proportion | n | Proportion | |||||
≤0.1 | 1962 | 0.87 | 72 | 0.15 | 0.17 | 0.14 | 0.21 | Moderate evidence (non-spliceogenicity) |
>0.1 and <0.2 | 175 | 0.08 | 38 | 0.08 | 1.00 | 0.71 | 1.39 | Uninformative |
≥0.2 | 109 | 0.05 | 381 | 0.78 | 15.99 | 13.23 | 19.32 | Moderate evidence (spliceogenicity) |
Abbreviation: CI, Confidence interval; LR, Likelihood ratio; n, number.
See Table S5 for criteria thresholds