RAmbler resolves complex repeats in human Chromosomes 8, 19, and X

Table 2.

Comparing RAmbler's assemblies (RA.HG38.HG002, RA.HG38.HG00733, and RA.HG38.HG01346) for selected regions of human Chromosomes 19, 8, and X against the GRCh38.p13 assembly (HG38) using CRAQ

Chromosome Metric HG002 HG00733 HG01346
HG38 RA.HG38.HG002 HG38 RA.HG38.HG00733 HG38 RA.HG38.HG01346
19 Coverage (%) 90.57 94.25 89.95 94.16 90.32 94.05
R-AQI 77.33 78.03 75.96 76.45 67.66 68.92
S-AQI 81.29 82.12 92.69 89.81 89.29 91.41
8 Coverage (%) 92.96 98.19 92.47 97.34 92.41 97.72
R-AQI 82.11 83.79 80.90 83.81 79.16 79.22
S-AQI 89.48 92.60 94.21 96.54 98.52 98.60
X Coverage (%) 94.02 98.31 93.91 97.95 94.06 97.71
R-AQI 81.52 81.76 86.66 86.17 83.60 82.85
S-AQI 92.15 93.66 94.69 94.86 96.32 97.42
  • CRAQ reports the assembly coverage rate (i.e., the fraction of the genome assembled), the regional assembly quality index (R-AQI) score (higher is better), and the structural assembly quality index (S-AQI) score (higher is better); CRAQ was provided Illumina reads (∼13.5× coverage) and long PacBio HiFi reads (∼66× coverage) for HG002; Illumina reads (∼12× coverage) and long PacBio HiFi reads (∼33× coverage) for HG00733; Illumina reads (∼10× coverage) and long PacBio HiFi reads (∼26× coverage) for HG01346. Numbers in bold indicate the best scores.

This Article

  1. Genome Res. 35: 863-876

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