Table 2 –
Risk gene discovery in OCD
Gene | # de novo LGD | # de novo Mis-D | # transmitted LGD | # non-transmitted LGD | # transmitted Mis-D | # non-transmitted Mis-D | p-value | q-value (FDR) |
---|---|---|---|---|---|---|---|---|
SCUBE1 | 1 | 1 | 0 | 0 | 0 | 0 | 2.96 × 10−6 | 0.091 |
CHD8 | 1 | 1 | 0 | 0 | 0 | 0 | 3.57 × 10−6 | 0.098 |
TTN | 0 | 3 | 1 | 1 | 9 | 10 | 0.0006 | 0.63 |
We used the TADA algorithm (He et al., 2013) to estimate the likelihood of observing gene-level recurrence of de novo damaging variants in three genes in unrelated individuals. Two of these genes, SCUBE1 and CHD8, exceeded the false discovery rate (FDR) threshold for high-confidence risk genes (q<0.1). Despite observing three de novo damaging variants in TTN, this gene did not meet criteria for a high-confidence or even a probable (q<0.3) risk gene, owing to its large size and high expected de novo mutation rate. See also Figure S5, Tables S2–S3, Table S5.