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A complete, telomere-to-telomere human genome sequence presents new opportunities for evolutionary genomics

Nature Methods volume 19, pages 635–638 (2022)Cite this article

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A Publisher Correction to this article was published on 22 June 2022

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The release of the first telomere-to-telomere (T2T) human genome sequence marks a milestone for human genomics research and holds promise of complete genomes for evolutionary genomic studies. Here we describe the advances that this new human genome assembly represents and explore the potential insights that the complete genome sequence could bring to evolutionary genomics. We also discuss the potential challenges to be faced in applying this new sequencing strategy to a broad spectrum of extant species.

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Fig. 1: A complete telomere-to-telomere (T2T) human genome sequence potentiates new investigations in comparative genomics and population genetics.

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Acknowledgements

We acknowledge valuable comments from Glennis A. Logsdon (University of Washington School of Medicine). This work was supported by International Partnership Program of Chinese Academy of Sciences (no. 152453KYSB20170002) and a Villum Investigator Grant (no. 25900) from the Villum Foundation to G.Z.

Author information

Authors and Affiliations

  1. Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China

    Yafei Mao

  2. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA

    Yafei Mao

  3. Evolutionary & Organismal Biology Research Center, Zhejiang University School of Medicine, Hangzhou, China

    Guojie Zhang

  4. Liangzhu Laboratory, Zhejiang University Medical Center, Hangzhou, China

    Guojie Zhang

  5. Villum Center for Biodiversity Genomics, Section for Ecology and Evolution, Department of Biology, University of Copenhagen, Copenhagen, Denmark

    Guojie Zhang

  6. State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China

    Guojie Zhang

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  1. Yafei Mao
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  2. Guojie Zhang
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Contributions

Y.M. and G.Z. conceived the project. Y.M. and G.Z. contributed to the writing.

Corresponding authors

Correspondence to Yafei Mao or Guojie Zhang.

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Mao, Y., Zhang, G. A complete, telomere-to-telomere human genome sequence presents new opportunities for evolutionary genomics. Nat Methods 19, 635–638 (2022). https://doi.org/10.1038/s41592-022-01512-4

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