Table 3. Variant detection concordance.
Variant Detected | Variant not detected | ||||
---|---|---|---|---|---|
True Positive (TP) | 409 | SNV: HET | 234 | False Negative (FN) | 0 |
SNV: HOM | 153 | ||||
Indels: HET (1–40 bp) | 22 | ||||
False Positives (FP) | 0 | True Negative (TN)* | 603737 |
*TN = Size of ROI (17769 bp) x Total Samples (34)—Total True positives in all samples