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. Author manuscript; available in PMC: 2015 Oct 23.
Published in final edited form as: Nat Genet. 2010 Jun 20;42(7):570–575. doi: 10.1038/ng.610

Table 4.

Expected and observed numbers of discoveries in external data sets

Expected number
of discoveriesa 		Observed number
of discoveries
Cancer
Total number of discoveries in CGEMS prostate two-stage study 2.7 5
Total number of discoveries in CGEMS breast two-stage study 3.0 3
Number of additional discoveries in the latest CRUK prostate studyb 9.5 7–9c
Height
Number of additional discoveries in ref. 13 after inclusion of stage 2d 9.3 11
GIANT consortiume 186 Not available

Data sets used for this validation exercise were not used in selection of loci for estimating effect size distribution. All calculations are based on a genome-wide significance of 10−7.

a

Obtained using the externally estimated distributions of effect sizes, along with sample size and study design of the specified studies.

b

Data from only five prostate cancer loci discovered from the original CRUK prostate study contributed to the estimation of the distribution of effect sizes of BPC cancers. Here, expected number of additional discoveries is calculated as the difference between expected number of discoveries with and without the third-stage data.

c

Study reported discovery of nine independent susceptibility SNPs from seven different chromosomal regions.

d

Data from only 20 loci discovered in the first stage of this study contributed to estimation of the distribution of effect size for height.

e

Prospective projection for a meta-analysis of GWAS data for 130,000 subjects.