From one human genome to a complex tapestry of ancestry

Rotimi, Charles N.; Adeyemo, Adebowale A.

doi:10.1038/d41586-021-00237-2

NEWS AND VIEWS
10 February 2021

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.

By

Charles N. Rotimi⁰ &
Adebowale A. Adeyemo¹

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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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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[1] International Human Genome Sequencing Consortium. Nature 409, 860–921 (2001).
Article PubMed Google Scholar

[2] Venter, J. C. et al. Science 291, 1304–1351 (2001).
Article Google Scholar

[3] The International SNP Map Working Group. Nature 409, 928–933 (2001).
Article Google Scholar

[4] The International HapMap Consortium. Nature 426, 789–796 (2003).
Article PubMed Google Scholar

[5] The International HapMap Consortium. Nature 449, 851–861 (2007).
Article PubMed Google Scholar

[6] The International HapMap 3 Consortium. Nature 467, 52–58 (2010).
Article PubMed Google Scholar

[7] Popejoy, A. B. & Fullerton, S. M. Nature 538, 161–164 (2016).
Article PubMed Google Scholar

[8] Bustamante, C. D., De la Vega, F. M. & Burchard, E. G. Nature 475, 163–165 (2011).
Article PubMed Google Scholar

[9] Martin, A. R. et al. Nature Genet. 51, 584–591 (2019).
Article PubMed Google Scholar

[10] The 1000 Genomes Project Consortium. Nature 526, 68–74 (2015).
Article PubMed Google Scholar

[11] McClellan, J. M., Lehner, T. & King, M.-C. Cell 171, 261–264 (2017).
Article Google Scholar

[12] Rotimi, C. N. et al. Hum. Mol. Genet. 26, R225–R236 (2017).
Article Google Scholar

[13] Choudhury, A. et al. Nature 586, 741–748 (2020).
Article Google Scholar

[14] Genovese, G. et al. Science 329, 841–845 (2010).
Article Google Scholar

[15] Adeyemo, A. A. et al. Nature Commun. 10, 3195 (2019).
Article Google Scholar

[16] The SIGMA Type 2 Diabetes Consortium. Nature 506, 97–101 (2014).
Article Google Scholar

[17] Keita, S. O. Y. et al. Nature Genet. 36, S17–S20 (2004).
Article PubMed Google Scholar

[18] Nature Biotechnol. 20, 637 (2002).
Article PubMed Google Scholar

[19] Baker, J. L., Rotimi, C. N. & Shriner, D. Sci. Rep. 7, 1572 (2017).
Article Google Scholar

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