Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • NEWS AND VIEWS

The first complete human genome

Sequences of the human genome have typically included gaps in repetitive regions of DNA. A combination of state-of-the-art technologies has now enabled researchers to generate the first complete human genome sequence.
  1. John T. Lovell

    1. John T. Lovell is at the Genome Sequencing Center, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA, and at the Joint Genome Institute, Lawrence Berkeley National Laboratory, Berkeley, California, USA.

    View author publications

    You can also search for this author in PubMed  Google Scholar

  2. Jane Grimwood

    1. Jane Grimwood is at the Genome Sequencing Center, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA, and at the Joint Genome Institute, Lawrence Berkeley National Laboratory, Berkeley, California, USA.

    View author publications

    You can also search for this author in PubMed  Google Scholar

The telomere-to-telomere (T2T) consortium has just taken a massive step forwards in human genomics. Writing in Science1, the group describes the first essentially complete sequence of a human genome, called the T2T-CHM13 assembly. This landmark resource, which contains regions of the genome that had not previously been represented in a reference assembly, provides an alternative sequence to the existing human reference genome2–4. Along with the sophisticated methods that enabled its construction, the assembly opens up a path to the generation of many diverse human genomes.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

Buy

All prices are NET prices.

Nature 606, 468-469 (2022)

doi: https://doi.org/10.1038/d41586-022-01368-w

References

  1. Nurk, S. et al. Science 376, 44–53 (2022).

    PubMed  Article  Google Scholar 

  2. Lander, E. S. et al. Nature 409, 860–921 (2001).

    PubMed  Article  Google Scholar 

  3. International Human Genome Sequencing Consortium. Nature 431, 931–945 (2004).

    PubMed  Article  Google Scholar 

  4. Schneider, V. A. et al. Genome Res. 27, 849–864 (2017).

    PubMed  Article  Google Scholar 

  5. Hoyt, S. J. et al. Science 376, eabk3112 (2022).

    PubMed  Article  Google Scholar 

  6. Altemose, N. et al. Science 376, eabl4178 (2022).

    PubMed  Article  Google Scholar 

  7. Zhou, J. et al. Nature Genet. 51, 973–980 (2019).

    PubMed  Article  Google Scholar 

  8. Rheinbay, E. et al. Nature 578, 102–111 (2020).

    PubMed  Article  Google Scholar 

  9. Aganezov, S. et al. Science 376, eabl3533 (2022).

    PubMed  Article  Google Scholar 

  10. Wang, T. et al. Nature 604, 437–446 (2022).

    PubMed  Article  Google Scholar 

Download references

Competing Interests

The authors declare no competing interests.

Subjects

Latest on:

Nature Careers

Jobs

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing

Search

Advanced search

Quick links