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HUMAN GENETICS

The final pieces of the human genome

Nature Reviews Genetics volume 23, page 321 (2022)Cite this article

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The first draft of the human genome was published over two decades ago, revolutionizing the genomics field. However, limitations of sequencing technology meant some genomic regions were incomplete or contained errors. In the latest reference sequence (GRCh38), ~8% of the genome remained unresolved. Now, the Telomere-to-Telomere (T2T) Consortium — an international collaboration of over 30 institutions — has assembled the first complete sequence of a human genome (T2T-CHM13), laying the groundwork for a new wave of biological and clinical discoveries.

Some of the largest gaps in the GRCh38 reference sequence include peri- or centromeric satellite DNAs — huge tandem repeats found around centromeres and along the short arms of acrocentric chromosomes. Using the T2T-CHM13 sequence, Altemose et al. revealed the genome-wide organization patterns underlying human centromeres, defined by alpha satellite DNA (αSat) arrays, providing evidence that these sequences evolve through ‘layered expansions’ — the periodic emergence of new αSat repeats within an existing array. Thus, the T2T-CHM13 assembly can be used to infer the evolutionary dynamics of repeat sequences.

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References

Original articles

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  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Michael Attwaters

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  1. Michael Attwaters
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Correspondence to Michael Attwaters.

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Attwaters, M. The final pieces of the human genome. Nat Rev Genet 23, 321 (2022). https://doi.org/10.1038/s41576-022-00494-5

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