• NEWS

A complete human genome sequence is close: how scientists filled in the gaps

Researchers added 200 million DNA base pairs and 115 protein-coding genes — but they’ve yet to entirely sequence the Y chromosome.
By
  1. Sara Reardon
Access through your institution
Buy or subscribe

When the sequencing of the human genome was announced two decades ago by the Human Genome Project and biotech firm Celera Genomics, the sequence was not truly complete. About 15% was missing: technological limitations left researchers unable to work out how certain stretches of DNA fitted together, especially those where there were many repeating letters (or base pairs). Scientists solved some of the puzzle over time, but the most recent human genome, which geneticists have used as a reference since 2013, still lacks 8% of the full sequence.

Access options

Access through your institution

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Learn more

Prices may be subject to local taxes which are calculated during checkout

Nature 594, 158-159 (2021)

doi: https://doi.org/10.1038/d41586-021-01506-w

References

  1. Nurk, S. et al. Preprint at bioRxiv https://doi.org/10.1101/2021.05.26.445798 (2021).

Download references

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