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From one human genome to a complex tapestry of ancestry

In the 20 years since the first drafts of the human genome were made public, an explosion in genome sequencing has revealed how our evolutionary history and health can be understood by analysing the diversity in our genomes.
  1. Charles N. Rotimi

    1. Charles N. Rotimi is at the Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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  2. Adebowale A. Adeyemo

    1. Adebowale A. Adeyemo is at the Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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The successful sequencing of the human genome1,2 in 2001 is considered by many to be one of the greatest achievements in biology. The published sequences were generated from the DNA of a few anonymous volunteers of differing ethnic backgrounds. However, a single genome (even one generated from many individuals) can provide only so much information. It was immediately clear that we would need to generate and compare more sequences from different people, if we were to harness information coded in genomes to better understand our health and heritage. So far, we have genomes for hundreds of thousands of individuals — more than was imaginable 20 years ago. Even so, we are just beginning to sequence diverse populations in the numbers needed to realize the promise of genomics.

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Nature 590, 220-221 (2021)

doi: https://doi.org/10.1038/d41586-021-00237-2

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