Extended Data Figure 6: Power of genome versus exome sequencing to discover dominant genes associated with DDs.
From: Prevalence and architecture of de novo mutations in developmental disorders
a, The number of genes exceeding genome-wide significance was estimated at three different fixed budgets ($USD1, 2 or 3 million) and a range of relative sensitivities for genomes versus exomes to detect DNMs. The number of genes identifiable by exome sequencing are shaded blue, whereas the number of genes identifiable by genome sequencing are shaded green. The regions where exome sequencing costs 30–40% of genome sequencing are shaded with a grey background, which corresponds to the price differential in 2016. b, Simulated estimates of power to detect loss-of-function genes in the genome at different cohort sizes, given fixed budgets.
