Table 4. Metrics from Imputation bootstrapping (1,000 runs).
metric | Number of
correct genotypes |
Total
number of genotypes |
No-call
number |
Correct
Proportion of genotypes |
Adjusted-
correct proportion of genotypes |
Missing
proportion of genotypes |
Wild-Type Homozygote | -α -3.7I Heterozygote | -α -3.7I Homozygote | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
sensitivity | specificity | accuracy | PPV | sensitivity | specificity | accuracy | PPV | sensitivity | specificity | accuracy | PPV | |||||||
70% threshold | ||||||||||||||||||
Minimum | 1645 | 2936 | 54 | 0.560 | 0.746 | 0.018 | 0.582 | 0.826 | 0.796 | 0.582 | 0.486 | 0.787 | 0.710 | 0.486 | 0.256 | 0.910 | 0.889 | 0.256 |
1 st Qu | 2173 | 2936 | 206.8 | 0.740 | 0.836 | 0.070 | 0.736 | 0.924 | 0.859 | 0.736 | 0.745 | 0.862 | 0.807 | 0.745 | 0.696 | 0.962 | 0.929 | 0.696 |
Median | 2259 | 2936 | 274.5 | 0.769 | 0.854 | 0.093 | 0.770 | 0.938 | 0.872 | 0.770 | 0.776 | 0.877 | 0.827 | 0.776 | 0.755 | 0.970 | 0.938 | 0.755 |
Mean | 2248 | 2936 | 296.2 | 0.766 | 0.852 | 0.101 | 0.765 | 0.934 | 0.871 | 0.765 | 0.772 | 0.875 | 0.825 | 0.772 | 0.747 | 0.968 | 0.937 | 0.747 |
SD | 123.92 | 120.15 | 0.040 | 0.025 | 0.040 | 0.050 | 0.020 | 0.020 | 0.050 | 0.050 | 0.020 | 0.030 | 0.050 | 0.090 | 0.010 | 0.010 | 0.090 | |
3 rd Qu | 2334 | 2936 | 361.2 | 0.795 | 0.869 | 0.123 | 0.800 | 0.948 | 0.883 | 0.800 | 0.807 | 0.891 | 0.844 | 0.807 | 0.809 | 0.976 | 0.946 | 0.809 |
Maximum | 2555 | 2936 | 1027 | 0.870 | 0.911 | 0.350 | 0.895 | 0.976 | 0.922 | 0.895 | 0.870 | 0.933 | 0.891 | 0.870 | 0.912 | 0.992 | 0.965 | 0.912 |
90% threshold | ||||||||||||||||||
Minimum | 1170 | 2936 | 215 | 0.399 | 0.771 | 0.073 | 0.453 | 0.851 | 0.754 | 0.453 | 0.302 | 0.829 | 0.639 | 0.302 | 0.134 | 0.932 | 0.876 | 0.134 |
1st Qu | 1791 | 2936 | 589.8 | 0.610 | 0.861 | 0.201 | 0.640 | 0.940 | 0.833 | 0.640 | 0.597 | 0.902 | 0.760 | 0.597 | 0.517 | 0.976 | 0.918 | 0.517 |
Median | 1938 | 2936 | 716 | 0.660 | 0.878 | 0.244 | 0.681 | 0.953 | 0.849 | 0.681 | 0.656 | 0.916 | 0.789 | 0.656 | 0.621 | 0.981 | 0.930 | 0.621 |
Mean | 1919 | 2936 | 742.8 | 0.654 | 0.875 | 0.253 | 0.678 | 0.949 | 0.847 | 0.678 | 0.647 | 0.915 | 0.785 | 0.647 | 0.612 | 0.980 | 0.929 | 0.612 |
SD | 194.51 | 212.13 | 0.066 | 0.025 | 0.072 | 0.062 | 0.018 | 0.022 | 0.062 | 0.081 | 0.020 | 0.038 | 0.081 | 0.137 | 0.008 | 0.017 | 0.137 | |
3rd Qu | 2059 | 2936 | 880 | 0.701 | 0893 | 0.300 | 0.721 | 0.961 | 0.862 | 0.721 | 0.706 | 0.929 | 0.813 | 0.706 | 0.717 | 0.985 | 0.941 | 0.717 |
Maximum | 2436 | 2936 | 1544 | 0.830 | 0.925 | 0.526 | 0.840 | 0.981 | 0.901 | 0.840 | 0.830 | 0.960 | 0.873 | 0.830 | 0.887 | 0.997 | 0.965 | 0.887 |
Adjusted-correct proportion was calculated for each run by adjusting the total number of genotypes by the number of no-called genotypes (Underlying Data2 Table AD_Impute2_overall_summary).