Figure 4.

Optimal design as a function of minor allele frequency and effect size. Percentage of participants sequenced (x‐axis) and total sample size (y‐axis) under optimal designs to attain statistical power $\ge$80% for rare and common variants across two effect size values for each of the four study populations using the Infinium Core array. Here, effect size refers to the χ ² NCP for single‐variant association tests given perfect genotype accuracy, which is defined as η ² in Section 2. RR values corresponding to each combination of MAF and NCP are indicated in the far‐right panel (for Sardinians). With NCP held constant, differences in optimal design for different MAF values are solely due to differences in imputation coverage and quality across the MAF spectrum. MAF, minor allele frequency; NCP, noncentrality parameter; RR, relative risk