Table 2.
Frequency of de novo variants by top 25% mouse RNA expression
| Category | Total number of de novo variants |
Frequency of de novo variants/subject |
Fold enrichment (95% CI)a | P-value* | ||
|---|---|---|---|---|---|---|
| CDH trios (n = 39) | Control (n = 787) | CDH trios (n = 39) | Controls (n = 787) | |||
| Synonymous | 0 | 45 | 0 | 0.06 | 0 (0–21.18) | 1.000 |
| LGD | 5 | 19 | 0.13 | 0.02 | 4.41 (1.82–21.18) | 0.005 |
| Likely deleterious | 8 | 45 | 0.21 | 0.06 | 3.20 (1.64–21.18) | 0.003 |
| All protein changing | 13 | 151 | 0.33 | 0.19 | 1.68 (1.01–21.18) | 0.048 |
| All variants | 13 | 196 | 0.33 | 0.25 | 1.32 (0.79–21.18) | 0.191 |
Bold fonts indicate significant after Bonferroni correction.
aThe fold enrichment is the ratio of variants in cases to variants in controls divided by the ratio of cases to controls.
*P-values compare the number of variants in each category between cases and controls using a two-sided binomial exact test (uncorrected).
CI, confidence interval.