HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

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Figure 3.
Figure 3.

HiCanu assembly of the CHM13 Chromosome 19 centromere. RepeatMasker (Smit et al. 2013) of tig00006497 reveals three α-satellite HOR arrays that reside within the Chromosome 19 centromere (D19Z1, D19Z2?, and D19Z3; marked with black bars). These HOR arrays are 606 kbp, 289 kbp, and 3.96 Mbp in length, respectively, and are composed of a 13-mer, a complex higher-order HOR, and a dimeric HOR unit, respectively. The HOR repeat underlying D19Z2 shares limited sequence identity with the pG-A16 repeat previously described (Hulsebos et al. 1988; Choo et al. 1991; Finelli et al. 1996) and, therefore, is designated with a question mark. The α-satellite HOR arrays have relatively uniform coverage of HiFi and ultralong Oxford Nanopore data, except for a drop in Oxford Nanopore sequencing coverage over the D19Z1 array, which may be owing to a misassembly, read mismapping, or biases in sequencing. The HiFi coverage plot shows fold coverage of the most common base (black) and the second most common base (red).

This Article

  1. Genome Res. 30: 1291-1305

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