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：
结构变体（SV）占灵长类动物物种内部和之间的大多数碱基对差异。然而,我们对物种间和物种内SV的理解一直受到灵长类动物基因组草图质量和关键分类群缺乏基因组资源的阻碍.最近,长读测序和基因组组装的进展已经开始从根本上重塑我们对SV的理解。两个具有里程碑意义的成就包括人类端粒到端粒（T2T）基因组的出版以及第一个人类pangenome参考文献的开发。在这次审查中,我们首先回顾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pangenome改变我们对灵长类SV的理解和方法的方式。最后,我们讨论了在T2T基因组和pangenomics时代，灵长类动物SV研究的未来可能是什么样子。
