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. Author manuscript; available in PMC: 2023 Oct 23.
Published in final edited form as: Nat Biotechnol. 2023 Feb 16;41(10):1474–1482. doi: 10.1038/s41587-023-01662-6

Table 2.

Quality and completeness of HG002 diploid assemblies.

Asm Contig
NG50 (Mb)
Scaffold
NG50 (Mb)
Hamming
error
QV #Errors (Chr X & Y)

Downsampled (35× HiFi / 60× ONT-UL)

Verkko 12.90 0.13% 52.18 10
Verkko + trio 80.77 102.55 0.13% 52.40 10
Verkko + Hi-C 58.24 82.42 0.16% 52.48 10
LJA 0.39 0.14% 55.75 7
Hifiasm (unitigs) 0.35 0.23% 61.05 2
Hifiasm + trio 64.50 0.06% 60.86 26
Hifiasm + Hi-C 66.34 0.79% 60.57 37

Full-coverage (>100× HiFi / 85× ONT-UL)

Verkko 17.35 0.05% 54.91 5
Verkko + trio 134.00 135.80 0.05% 55.77 5
Verkko + Hi-C 68.32 85.97 0.05% 55.57 5
HPRC curated 72.70 146.75 0.13% 61.35 26

We evaluated contig NG50 and phase accuracy for all assemblies using Merqury 58. With a goal of phased assemblies, pseudo-haplotype outputs from Flye and Hifiasm were not considered. We evaluated hamming error rate (the fraction of non-dominant allele variants in a unitig) and Phred QV 59 using Merqury. We measured errors versus the recently finished HG002 chromosomes X and Y 14 using QUAST. Results are shown for DeepConsensus HiFi; results from the original HiFi reads are in Supplementary Table 6. LJA and Hifiasm do not output scaffolds, so no scaffold NG50 values are reported. Verkko assemblies used 105× HiFi coverage (mean 17.5 kbp, Data availability) while the HPRC curated assembly used 130× HiFi coverage (mean 14.8 kbp) 11. The best result for each coverage level and category is highlighted in bold.