Table 2.
Benchmark | HG002 R9 | HG002 R10 kit V14 |
---|---|---|
| ||
Assembly benchmarks | ||
| ||
Asm. size | 2.896 Gb | 2.927 Gb |
Asm. NG50 | 21.4 Mb | 14.9 Mb |
Asm. phase block N50 | 1.010 Mb | 0.99 Mb |
Asm. SNP switch | 0.00165 | 0.0015 |
Asm. QV | 34.3 | 42.8 |
Asm. SNP recall / precision | 0.9795/0.9528 | 0.9851 / 0.9856 |
| ||
Small variant calls benchmarks (recall / precision) | ||
| ||
SNP (GIAB Tier 1) | 0.997 / 0.9982 | 0.9979 / 0.998 |
Indel (GIAB Tier 1) | 0.7217 / 0.8715 | 0.8495 / 0.8991 |
Indel (no homopol. or tandem repeats) | 0.9609 / 0.9807 | 0.9970 / 0.9969 |
Indel (RefSeq CDS) | 0.9121 / 0.9342 | 0.9948 / 0.9748 |
| ||
Structural variant benchmarks (recall / precision) | ||
| ||
SV (GIAB Tier1) | 0.9782 / 0.9557 | 0.975 / 0.9595 |
SV (HPRC non-Cen non-SD) | 0.9689 / 0.9685 | 0.9764 / 0.9835 |
SV (HPRC only SD) | 0.4921 / 0.6064 | 0.5277 / 0.6355 |
Substantial improvements in different categories are highlighted in bold. Benchmarks were performed using the methods described above in the manuscript.