Table 3. Imputation accuracy for the two-step approach compared with direct imputation stratified per genotype class.
Minor allele frequency | N | Two stepa accuracy, mean (SD) | Direct accuracy, mean (SD) | P-valueb |
---|---|---|---|---|
Common homozygotes (major–major) | ||||
>0–1% | 25 087 | 0.998 (0.005) | 0.999 (0.004) | — |
1–5% | 25 087 | 0.998 (0.006) | 0.998 (0.006) | — |
5–10% | 18 613 | 0.996 (0.009) | 0.996 (0.01) | — |
Heterozygotes (minor–major) | ||||
>0–1% | 25 087 | 0.830 (0.237) | 0.806 (0.244) | 3.4e-6 |
1–5% | 25 071 | 0.915 (0.145) | 0.886 (0.172) | <1e-15 |
5–10% | 18 613 | 0.955 (0.083) | 0.942 (0.106) | <1e-15 |
Rare homozygotes (minor–minor) | ||||
>0–1% | 0 | — | — | — |
1–5% | 1248 | 0.895 (0.241) | 0.826 (0.294) | <1e-15 |
5–10% | 6746 | 0.925 (0.204) | 0.888 (0.245) | <1e-15 |
First imputation filter on r2>0.3.
Comparing groups, heterozygotes and rare homozygotes in each minor allele frequency bin.