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. Author manuscript; available in PMC: 2011 Dec 1.
Published in final edited form as: Hum Genet. 2010 Sep 7;128(6):597–608. doi: 10.1007/s00439-010-0880-x

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

a

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)

b

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.

c

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.