Table 2. Baseline validation on a homogeneous reference panel.
Threshold | Locus | # Validated | HLA*IMP:02 | HLA:IMP:01 | ||||
Call Rate | Accuracy | T | Call Rate | Accuracy | T | |||
T = 0.00 | HLA-A | 574 | 1.00 | 0.96 | 1.00 | 0.90 | ||
HLA-B | 2002 | 1.00 | 0.90 | 1.00 | 0.93 | |||
HLA-C | 596 | 1.00 | 0.96 | 1.00 | 0.96 | |||
HLA-DQA1 | 446 | 1.00 | 0.87 | 1.00 | 0.87 | |||
HLA-DQB1 | 758 | 1.00 | 0.98 | 1.00 | 0.97 | |||
HLA-DRB1 | 1730 | 1.00 | 0.88 | 1.00 | 0.89 | |||
T = Matched | HLA-A | 574 | 0.96 | 0.96 | 0.55 | 0.94 | 0.91 | 0.700 |
HLA-B | 2002 | 0.98 | 0.92 | 0.40 | 0.98 | 0.94 | 0.700 | |
HLA-C | 596 | 0.99 | 0.96 | 0.60 | 0.99 | 0.97 | 0.700 | |
HLA-DQA1 | 446 | 0.99 | 0.88 | 0.40 | 0.99 | 0.88 | 0.700 | |
HLA-DQB1 | 758 | 0.99 | 0.98 | 0.60 | 0.99 | 0.97 | 0.700 | |
HLA-DRB1 | 1730 | 0.90 | 0.93 | 0.60 | 0.90 | 0.93 | 0.700 |
Non-thresholded and thresholded HLARES validation results for HLA*IMP:02 and HLA*IMP:01: the complete GS is used to impute HLARES_EU samples. Accuracy (PPV) is measured at 4-digit resolution. “# Validated” refers to the number of validated alleleles (pre-thresholding). Note that the call threshold for HLA*IMP:02 was matched to obtain equal or higher call rates than with HLA*IMP:01.