Completing human genomes

Nature Methods volume 19, page 629 (2022)Cite this article

Nature Methods is pleased to publish several papers presenting methods developed by members of the Telomere-to-Telomere (T2T) Consortium, which facilitated the generation and analysis of the first complete human genome.

The genome sequence of a species not only provides the fundamental basis for the genomics field, but also bears fruit for fields beyond genomics. Proteomics, genome editing and medical genetics studies all benefit from the resource of a high-quality genome sequence. Although the existing human reference genome has been widely used and richly annotated, it is not complete, with gaps and errors in many highly repetitive and complex genomic regions such as centromeres and segmental duplications. The recalcitrance of those regions to traditional sequencing strategies poses one of the major challenges in genomic research, hindering a full understanding of the human genome.

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https://www.nature.com/articles/s41592-022-01537-9?utm_source=nmeth_etoc&utm_medium=email&utm_campaign=toc_41592_19_6&utm_content=20220621