Table 6.
Estimated relative total cost* (power/proportion of total study samples genotyped in stage 1) of GWA study (M = 500,000 SNPs) for one- and two-stage study designs that include only study controls (n = 2,000), only public controls (n = 5,000) or both. Relative cost estimates assume 2,000 cases, a multiplicative genetic model with susceptibility minor allele frequency = 0.3, K = 0.10 and GRR = 1.3. The relative costs of genotyping 16,000, 7,500, 1,500, and 100 SNPs was assumed to be 1/2, 1/3, 1/5, and 1/12 of the cost of genotyping all 500,000 SNPs on GWA panel, respectively.
One–Stage Genotype Design(All Samples Genotyped on GWA Panel) | Study Controls Only | Public Controls Only | Study + Public Controls | |
---|---|---|---|---|
$1.00 (0.78/1.00) | $0.50 (0.90/1.00) | $1.00 (0.97/1.00) | ||
Two-Stage Genotype Design | Joint-Analysis Study Controls Onlya | Joint-Analysis Public Controls Onlyb | Joint-Analysis Public + Study Controlsc | Replication- Based Public + Study Controlsc |
Follow-up Platform | ||||
100 SNPs | $0.725 (0.78/0.70) | $0.317 (0.89/0.60) | $0.395 (0.95/0.68) | $0.335 (0.89/0.55) |
1,500 SNPs | $0.640 (0.78/0.55) | $0.280 (0.89/0.45) | $0.400 (0.95/0.50) | $0.360 (0.87/0.40) |
7,500 SNPs | $0.640 (0.78/0.46) | $0.287 (0.89/0.36) | $0.448 (0.95/0.39) | $0.437 (0.85/0.31) |
16,500 SNPs | $0.700 (0.78/0.40) | $0.328 (0.89/0.31) | $0.585 (0.95/0.34) | $0.568 (0.84/0.27) |
Costs are calculated relative to the cost of genotyping 2,000 study cases and 2,000 study controls on GWA marker panel
For joint-analysis two-stage design, proportion of samples genotyped in stage 1 represents proportion of cases and study controls (both included in stage 1 genotyping)
For joint-analysis two-stage design, proportion of samples genotyped in stage 1 represents proportion of cases genotyped in stage 1. No study controls are genotyped in stage 1 or stage 2.
For joint-analysis and replication-based two-stage designs, proportion of samples genotyped in stage 1 represents proportion of cases genotyped in stage 1. All study controls are genotyped in stage 2.