Table 2.
GWAS dataset | Imputation methoda | Reference panelb | Imputation Accuracy (mean R2)c
|
||
---|---|---|---|---|---|
MAF 1–3% | MAF 3–5% | MAF >5% | |||
GAIN Psoriasis (European-American; N = 2,759) | MaCH/minimac | 60 CEU | 0.67 | 0.76 | 0.91 |
0.69 | 0.77 | 0.91 | |||
283 EUR | 0.73 | 0.78 | 0.92 | ||
381 EUR | 0.83 | 0.85 | 0.94 | ||
WTCCC2 (United Kingdom; N = 2,490) | IMPUTE2 (sampling/pre-phasing) | 60 CEU | 0.66 | 0.78 | 0.88 |
0.65 | 0.77 | 0.87 | |||
283 EUR | 0.77 | 0.82 | 0.89 | ||
0.75 | 0.81 | 0.88 | |||
381 EUR | 0.84 | 0.88 | 0.92 | ||
0.82 | 0.86 | 0.91 | |||
WHI (African-American; N = 8,421) | MaCH/minimac | 60 CEU + 59 YRI | 0.51 | 0.73 | 0.83 |
0.49 | 0.70 | 0.80 | |||
283 EUR + 172 AFR | 0.55 | 0.72 | 0.81 | ||
381 EUR + 174 AFR | 0.61 | 0.75 | 0.83 | ||
1000 Genomes EUR (European ancestry; N = 381) | IMPUTE2 (sampling/pre-phasing) | 380 EUR (WTCCC2 SNPs) | 0.82 | 0.86 | 0.92 |
0.81 | 0.85 | 0.91 | |||
380 EUR (sequence SNPs) | 0.66 | 0.79 | 0.91 | ||
0.64 | 0.78 | 0.90 |
We imputed each GWAS dataset with an existing imputation method (plain text) and its pre-phasing counterpart (bold text).
Reference panels used to impute each GWAS dataset, in order: 1000 Genomes low-coverage pilot (June 2010); 1000 Genomes interim release (Aug 2010); 1000 Genomes interim Phase I release (Nov 2010).
Each cell shows the mean R2 between true genotypes and imputed dosages for the specified MAF band and reference panel. For a given GWAS dataset, all accuracy values within an MAF band were calculated on the same set of SNPs; the corresponding SNP counts are shown in Figure S1. Accuracy values from pre-phasing are shown in bold (some analyses were performed only with pre-phasing).