人类和我们灵长类近亲的结构变异在端粒到端粒基因组和泛基因组时代。

Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomics.

机构信息

Department of Integrative Biology, University of California, Berkeley, Berkeley, USA. Electronic address: https://twitter.com/@joanocha.

Department of Integrative Biology, University of California, Berkeley, Berkeley, USA. Electronic address: https://twitter.com/@NicolasLou10.

出版信息

Curr Opin Genet Dev. 2024 Aug;87:102233. doi: 10.1016/j.gde.2024.102233. Epub 2024 Jul 23.

Abstract

Structural variants (SVs) account for the majority of base pair differences both within and between primate species. However, our understanding of inter- and intra-species SV has been historically hampered by the quality of draft primate genomes and the absence of genome resources for key taxa. Recently, advances in long-read sequencing and genome assembly have begun to radically reshape our understanding of SVs. Two landmark achievements include the publication of a human telomere-to-telomere (T2T) genome as well as the development of the first human pangenome reference. In this review, we first look back to the major works laying the foundation for these projects. We then examine the ways in which T2T genome assemblies and pangenomes are transforming our understanding of and approach to primate SV. Finally, we discuss what the future of primate SV research may look like in the era of T2T genomes and pangenomics.

摘要

结构变异 (SV) 在灵长类动物的种内和种间碱基对差异中占大多数。然而,由于灵长类动物的基因组草案质量和关键分类单元的基因组资源的缺乏,我们对种间和种内 SV 的理解在历史上一直受到阻碍。最近,长读测序和基因组组装技术的进步开始彻底改变我们对 SV 的理解。两项具有里程碑意义的成就包括发表了人类端粒到端粒 (T2T) 基因组以及开发了第一个人类泛基因组参考。在这篇综述中,我们首先回顾了为这些项目奠定基础的主要工作。然后,我们研究了 T2T 基因组组装和泛基因组如何改变我们对灵长类动物 SV 的理解和方法。最后,我们讨论了在 T2T 基因组和泛基因组时代,灵长类动物 SV 研究的未来可能是什么样子。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ce5/11695101/7a37d90b20d3/nihms-2042734-f0001.jpg

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