Table 1.
De novo enrichment analysis among cases
|
De novo enrichment analysis in 70 TN cases | ||||||
|---|---|---|---|---|---|---|
| Class | Observed | rate_obs_cases | Expected | rate_exp_cases | Enrichment | p value |
| all | 74 | 1.057142857 | 79.5 | 1.135714286 | 0.931 | 0.747 |
| syn | 22 | 0.314285714 | 22.5 | 0.321428571 | 0.977 | 0.571 |
| misT | 27 | 0.385714286 | 37.4 | 0.534799393 | 0.721 | 0.968 |
| misD | 17 | 0.242857143 | 12.7 | 0.181428571 | 1.34 | 0.141 |
| lof | 8 | 0.114285714 | 6.9 | 0.098571429 | 1.16 | 0.387 |
| protD | 25 | 0.357142857 | 19.6 | 0.28 | 1.28 | 0.134 |
| prot | 52 | 0.742857143 | 57 | 0.814285714 | 0.912 | 0.764 |
Results of the enrichment analysis for DNMs across all genes in cases. Corresponds to supplemental table 2b in Dong et al. (2020).