Extended Data Fig. 10: Cerebral palsy gene discovery projections.
From: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
a, Estimation of the number of cerebral palsy risk genes via de novo mechanism. Monte Carlo simulation performed was performed based on observed damaging de novo mutations in 3,049 loss-of-function intolerant genes (pLI ≥ 0.9 in gnomAD (v2.1.1)) using 20,000 iterations. We estimate that the number of risk genes via de novo events to be ~75 (95% confidence interval = (26.5, 123.5)). b, Estimation of the number of recurrent genes. The number of trios and the number of genes with more than one damaging de novo mutation are specified on the x and y-axis, respectively. We modeled the expected rate of damaging de novo mutations given an increasing sample size. A total of 10,000 iterations were performed to estimate the number of genes with more than one damaging de novo mutations taking into account of the damaging de novo mutation probability. WES of 2,500 and 7,500 trios are expected to yield a 65.3% and 91.8% saturation rate, respectively, for all cerebral palsy risk genes.
