Table 1. Summary Assembly Statistics.
| Assembly | Polishing | Contigs | # Bases (Mbp) | Max Contig (kb) |
NG50 (kb) |
GRCh38 Identity |
GM12878 Identity |
|---|---|---|---|---|---|---|---|
| WGS Metrichor | N/A | 2,886 | 2,646.01 | 27,160 | 2,964 | 95.20% | 95.74% |
| Pilon x2 | 2,763.18 | 28,413 | 3,206 | 99.29% | 99.88% | ||
| Chr 20 Metrichor | N/A | 85 | 57.83 | 7,393 | 3,047 | 94.90% | 95.50% |
| Nanopolish | 60.35 | 7,667 | 5,394 | 98.84% | 99.24% | ||
| Pilon x2 | 60.58 | 7,680 | 5,423 | 99.33% | 99.89% | ||
| Nano + Pilon x2 | 60.76 | 7,698 | 5,435 | 99.64% | 99.95% | ||
| Chr 20 Scrappie | N/A | 74 | 59.39 | 8,415 | 2,643 | 97.43% | 97.80% |
| Nanopolish | 60.15 | 8,521 | 2,681 | 99.12% | 99.44% | ||
| Pilon x2 | 60.36 | 8,541 | 2,691 | 99.64% | 99.95% | ||
| Nano + Pilon x2 | 60.34 | 8,545 | 2,691 | 99.70% | 99.96% |
Summary of assembly statistics. Whole genome assembly (WGA) was performed with reads base called by Metrichor. Chromosome 20 was assembled with reads produced by Metrichor and Scrappie. All datasets contained 30× coverage of the genome/chromosome. The GRCh38 identities were computed based on 1-1 alignments to the GRCh38 reference including alt sites. A GM12878 reference was estimated using an independent sequencing dataset 20 (Methods).