Table 9 Summary of performance metrics for GSA and rWGS relative to 1KG Phase 3 data
Performance metrics | Global screening array (GSA) versus. 1KG mean (± std.dev) | Whole genome sequencing (WGS) versus 1KG mean (± std.dev) |
|---|---|---|
Concordance | 0.9932 (± 0.0005) | 0.9981 (± 0.0005) |
Sensitivity | 0.9927 (± 0.0007) | 0.9981 (± 0.0005) |
Specificity | 0.9957 (± 0.0003) | 0.9991 (± 0.0003) |
Positive predictive value (PPV) | 0.9892 (± 0.0008) | 0.9977 (± 0.0007) |