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

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Figure 1.
Figure 1.

Comparing RAmbler's assemblies (RA.HG38.HG01346 and RA.T2T.CHM13) against (A,B) the GRCh38.p13 assembly (HG38) and (C,D) the T2T-CHM13.v2.0 assembly (T2T) of human Chromosomes 8, 19, and X. In all plots, blocks (i), (ii), and (iii) are noncentromeric repeats in Chromosome 19; blocks (iv) and (v) are the centromeric regions of Chromosomes 8 and X, respectively. (A,C) NucFreq plots illustrating HiFi read mapping coverage (clipped at 60×); (B,D) CRAQ Circos plots illustrating (a) assembly quality index (AQI) score (higher is better), (b) base errors (fewer is better), and (c) misjoins (fewer is better).

This Article

  1. Published in Advance March 4, 2025, doi: 10.1101/gr.279308.124 Genome Res. 35: 863-876

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