Table 1.
Revio versus Sequel II assembly-based callset comparison
| SAMPLE | SVTYPE | TRUTH SET | RECALL (HiFi) | RECALL (REVIO) | RECALL DIFF | PRECISION (HIFI) | PRECISION (REVIO) | PRECISION DIFF |
|---|---|---|---|---|---|---|---|---|
| HG002 | SV (ins) | Freeze 4 | 0.94 | 0.91 | −0.03 | 0.823 | 0.865 | 0.042 |
| HG002 | SV (del) | Freeze 4 | 0.927 | 0.901 | −0.026 | 0.869 | 0.859 | −0.01 |
| HG002 | SNV | GIAB | 0.974 | 0.998 | 0.024 | 0.825 | 0.811 | −0.015 |
| HG002 | SNV | Freeze 4 | 0.97 | 0.992 | 0.022 | 0.897 | 0.879 | −0.018 |
| HG002 | indel (ins) | GIAB | 0.955 | 0.944 | −0.012 | 0.549 | 0.584 | 0.036 |
| HG002 | indel (ins) | Freeze 4 | 0.959 | 0.971 | 0.012 | 0.706 | 0.77 | 0.064 |
| HG002 | indel (del) | GIAB | 0.953 | 0.947 | −0.006 | 0.605 | 0.598 | −0.006 |
| HG002 | indel (del) | Freeze 4 | 0.965 | 0.986 | 0.022 | 0.776 | 0.789 | 0.014 |
*
PAV assembly-based variant-calling comparison for WGS data generated for HG002 on a Revio system compared to the 30X downsampled HG002 generated via the Sequel II platform compared to the HGSVC truth set (Freeze 4) and Genome in a Bottle (GIAB).