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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.
  1. Sara Reardon
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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.

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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).

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