| Method | Variant type | I-A Recall | I-A Precision | I-A F1-score | I-B Recall | I-B Precision | I-B F1-score |
|---|---|---|---|---|---|---|---|
| BaselineBN | Indel | 94.06% | 87.21% | 90.51% | 66.22% | 48.06% | 55.70% |
| SNP | 99.14% | 99.56% | 99.35% | 90.76% | 80.12% | 85.11% | |
| RUN-DVC | Indel | 94.65% | 92.28% | 93.45% | 61.22% | 69.42% | 65.06% |
| SNP | 99.17% | 99.53% | 99.35% | 88.54% | 94.69% | 91.51% | |
| Full-label | Indel | 96.70% | 97.58% | 97.14% | 64.62% | 86.07% | 73.82% |
| SNP | 99.14% | 99.64% | 99.39% | 89.33% | 97.01% | 93.02% |
Table Caption: Variant calling result (PASS calls) in HG002 sample of I-A and I-B under UDA setting.
| Method | Variant type | I-C Recall | I-C Precision | I-C F1-score | I-D Recall | I-D Precision | I-D F1-score |
|---|---|---|---|---|---|---|---|
| BaselineBN | Indel | 86.29% | 92.85% | 89.45% | 91.42% | 82.87% | 86.93% |
| SNP | 95.50% | 99.44% | 97.43% | 98.81% | 99.65% | 99.23% | |
| RUN-DVC | Indel | 87.35% | 95.27% | 91.14% | 94.71% | 93.85% | 94.28% |
| SNP | 95.49% | 99.52% | 97.47% | 99.04% | 99.70% | 99.37% | |
| Full-label | Indel | 89.88% | 97.61% | 93.59% | 96.37% | 97.19% | 96.78% |
| SNP | 96.20% | 99.52% | 97.83% | 99.22% | 99.69% | 99.45% |
Table Caption: Variant calling result (PASS calls) in HG002 sample of I-C and I-D under UDA setting.
| Method | Variant type | P-A Recall | P-A Precision | P-A F1-score | O-A Recall | O-A Precision | O-A F1-score |
|---|---|---|---|---|---|---|---|
| BaselineBN | Indel | 97.14% | 96.22% | 96.68% | 74.01% | 80.42% | 77.08% |
| SNP | 99.39% | 99.93% | 99.66% | 99.61% | 99.59% | 99.60% | |
| RUN-DVC | Indel | 97.44% | 97.03% | 97.23% | 73.87% | 81.21% | 77.37% |
| SNP | 99.42% | 99.93% | 99.68% | 99.60% | 99.58% | 99.59% | |
| Full-label | Indel | 98.48% | 98.69% | 98.58% | 76.40% | 83.72% | 79.89% |
| SNP | 99.56% | 99.93% | 99.75% | 99.63% | 99.58% | 99.60% |
Table Caption: Variant calling result (PASS calls) in HG002 sample of P-A and O-A under UDA setting.
