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

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

This article has been updated

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.

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

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Correspondence to Yafei Mao or Guojie Zhang.

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The authors declare no competing interests.

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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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