Table 2:
Gene recurrence rates in SCZ probands and controls
| DNM | Observed recurrent genes | Expected recurrent genes | Fold-enrichment | Empirical p-value | |
|---|---|---|---|---|---|
| 2772 SCZ probands | |||||
| PTV | 296 | 16 | 5.1 | 3.15 | 3e-5 |
| Missense | 1763 | 150 | 136.6 | 1.10 | 0.09 |
| Synonymous | 635 | 29 | 21.2 | 1.37 | 0.05 |
| All DNM | 2694 | 314 | 286.2 | 1.10 | 0.02 |
| 2216 controls | |||||
| PTV | 212 | 4 | 2.7 | 1.51 | 0.27 |
| Missense | 1320 | 89 | 81.2 | 1.10 | 0.17 |
| Synonymous | 512 | 18 | 14.1 | 1.28 | 0.16 |
| All DNM | 2044 | 195 | 177.4 | 1.10 | 0.06 |
Fold-enrichment and empirical p-values (all one-sided and unadjusted) are from permutations using DNM model rates (Online methods).