Table 1:
Downsampled (50x Duplex / 30× ONT-UL) | ||||||||
Verkko + Pore-C | 86.69 | 135.21 | 0.75% | 55.72 | 232 | 361 | 13 | 26/46 |
Full-coverage (70x Duplex) | ||||||||
Verkko + Pore-C | 43.16 | 133.48 | 0.77% | 56.49 | 290 | 310 | 4 | 17/46 |
HiFi (43x/30x ONT-UL) (Cheng et al. 2023) | ||||||||
Hifiasm + trio | 101.21 | N/A | 0.20% | 60.37 | 182 | 287 | 7 | N/A/46 |
Contig NG50: The length of the shortest contig such that half of the genome is in contigs of this length or greater. No gaps are allowed and sequences are split where a gap of at least 3 Ns is present. The genome size is defined as 6.08 Gbps based on the reference HG002 assembly (https://github.com/marbl/HG002/blob/main/README.md). Scaffold NG50: same as contig NG50 without splitting at gaps. Hamming error: The haplotype error rate computed using yak (Liao et al. 2023) and parent short-read sequence databases measuring the consistency of each scaffold with a single haplotype, lower is better. QV: the Phred (Ewing and Green 1998) log-scaled quality score calculated using Merqury (Rhie et al. 2020), higher is better. Dup/Missing Gene: duplicated or missing genes computed using compleasm (Huang and Li 2023) using the OrthoDB v10 (Waterhouse et al. 2018; Zdobnov et al. 2021) primate database, lower is better. Each haplotype was measured independently and the missing and duplicated genes reported are the sum of both haplotypes. Since single-copy genes from Chromosome X are expected to be missing on the paternal haplotype and some genes may be true duplications, we also measured gene completeness on the HG002 v0.7 assembly (https://github.com/marbl/HG002/blob/main/README.md) (Supplementary Table 2) as a baseline. This assembly has 180 duplicated and 290 missing genes. T2T ctgs: The count of telomere-to-telomere contigs for each assembly. A contig is defined as T2T if it has the canonical (TTAGGG) telomere sequence within 50 kbp of the start and end and has no gaps, higher is better. T2T scfs: same as T2T ctgs but gaps are allowed, higher is better.