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GENOMICS

Polishing high-quality genome assemblies

Nature Methods volume 19, pages 649–650 (2022)Cite this article

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A repeat-aware pipeline corrects structural assembly errors and polishes assembly sequences in large repeats without overcorrection.

High-quality reference genome sequences are essential for biomedical research on humans and other species. For the construction of high-quality reference genome sequences, improving consensus sequence accuracy, filling assembly gaps and fixing structural misassemblies (‘chasing perfection’) of genome assemblies remain important yet challenging tasks. In this issue of Nature Methods, Mc Cartney et al.1 report a new repeat-aware polishing strategy that makes accurate assembly corrections in large repeats without overcorrection, and describe its application to the telomere-to-telomere (T2T) assembly of a human genome2.

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Fig. 1: The polishing strategy to generate CHM13v1.0 and CHM13v1.1 assemblies.

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Acknowledgements

The authors are supported by NIH NIGMS grant GM132713.

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Authors and Affiliations

  1. Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Li Fang & Kai Wang

  2. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Kai Wang

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  1. Li Fang
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  2. Kai Wang
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Correspondence to Kai Wang.

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The authors declare no competing interests.

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Fang, L., Wang, K. Polishing high-quality genome assemblies. Nat Methods 19, 649–650 (2022). https://doi.org/10.1038/s41592-022-01515-1

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  • DOI: https://doi.org/10.1038/s41592-022-01515-1

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