Table 1. De novo mutation frequencies in the offspring of control and irradiated parents.
| Group | No mutations* | Mutation frequency (95% CI) | Ratio† | Probability‡ |
|---|---|---|---|---|
| De novo CNV | ||||
| Control | 1 (93) | 0.0108 (4.30 × 10−6–0.0616) | — | — |
| Post-meiotic | 5 (69) | 0.0725 (0.0229–0.1705) | 6.74 | 0.0510 |
| Pre-meiotic | 9 (100) | 0.0900 (0.0408–0.1716) | 8.37 | 0.0125 |
| All irradiated | 14 (169) | 0.0828 (0.0451–0.1394) | 7.70 | 0.0110 |
| Indels | ||||
| Control | 7 (6) | 1.1667 (0.4690–2.4037) | — | — |
| Post-meiotic | 17 (6) | 2.8333 (1.6505–4.5364) | 2.43 | 0.0262 |
| SNVs | ||||
| Control | 94 (6) | 15.6000 (12.6602–19.1720) | — | — |
| Post-meiotic | 99 (6) | 16.5000 (13.4104–20.0882) | 1.05 | 0.3736 |
| Multisite | ||||
| Control | 1 (6) | 0.1667 (0.0040–0.9286) | — | — |
| Post-meiotic | 9 (6) | 1.5000 (0.6859–2.8474) | 9.00 | 0.0093 |
CI, confidence interval; CNV, copy number variant; Indels, insertion/deletion events; SNV, single-nucleotide variant.
*The number of offspring is given in brackets.
†Ratio to the frequency of de novo mutations in controls.
‡Probability of difference from controls. For all the de novo CNV mutations the probability was estimated using Fisher’s exact test, one-tailed, and for the remaining classes of mutation using a one-tailed test based on Poisson simulation of mutations in exposed and control populations (Methods).