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Genomics beyond complete genomes

Nature Methods volume 19, page 29 (2022)Cite this article

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Method development is indispensable for obtaining complete genomes, and deciphering them.

Complete genomes are unveiling some of the most challenging genomic regions to sequence and assemble, such as pericentromeric and subtelomeric regions, segmental duplications and ribosomal DNA arrays. With this new data trove, our understanding of these dark genomic regions will be deepened through the exploration of their structure, function and evolution. Beyond that, filling in the gaps in previously sequenced genomes can lead to more comprehensive pictures of many genomic features, including epigenetic patterns (bioRxiv https://doi.org/10.1101/2021.05.26.443420, 2021) and repeat elements (bioRxiv https://doi.org/10.1101/2021.07.12.451456, 2021). To unleash the potential of telomere-to-telomere genomes in human populations and other species, initiatives like the Human Pangenome Project (Annu. Rev. Genomics Hum. Genet. 22, 81–102, 2021) and Vertebrate Genomes Project (Nature 592, 737–746, 2021) are under way.

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    Lin Tang

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Correspondence to Lin Tang.

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Tang, L. Genomics beyond complete genomes. Nat Methods 19, 29 (2022). https://doi.org/10.1038/s41592-021-01374-2

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  • DOI: https://doi.org/10.1038/s41592-021-01374-2

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