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. Author manuscript; available in PMC: 2022 Nov 15.
Published before final editing as: Nature. 2021 May 14:10.1038/d41586-021-01095-8. doi: 10.1038/d41586-021-01095-8

Figure 1 |. Resolving the gaps in human chromosome 8.

Figure 1 |

The five gaps present in chromosome 8 in the current human reference genome sequence (GRCh38) were resolved using CHM13 cells, which have a single haploid equivalent of the human genome. Ultra-long reads from Oxford Nanopore Technologies (ONT) were assembled into a sequence scaffold. High-fidelity (HiFi) reads from Pacific Biosciences (PacBio) were then used to generate continuous DNA sequences that replaced the ONT-based scaffold. The HiFi assemblies were integrated into a previously generated assembly of CHM13 chromosome 8 (ref. 4) and validated. Closure of these gaps allowed new genes, epigenetic patterns (such as DNA methylation (red diamonds)) and evolutionary features to be identified in previously unseen regions of the human chromosome 8 sequence.