Table 3 Benchmarking metrics for InDels of different size ranges in NA24385 (truth set NIST v3.3.2, total bases = 12,626,866) for the regions within ~ 7000 clinically relevant genes (as specified in “Methods” section)
Size of InDels in NA24385 | Truth total | TP | FP | FN | TN | NPA | Precision | Recall |
|---|---|---|---|---|---|---|---|---|
1–10 | 145 | 136 | 12 | 9 | 12,626,709 | 100 | 91.89 | 93.79 |
11–20 | 9 | 9 | 0 | 0 | 12,626,857 | 100 | 100 | 100 |
21–50 | 3 | 3 | 0 | 0 | 12,626,863 | 100 | 100 | 100 |
All Indels | 157 | 148 | 12 | 9 | 12,626,697 | 100 | 92.50 | 94.27 |