We are entering into an exciting era of genomics where truly complete, high-quality assemblies of human chromosomes are available end-to-end, or from ‘telomere-to-telomere’ (T2T). This technological advance offers a new opportunity to include endogenous human centromeric regions in high-resolution, sequence-based studies. These emerging reference maps are expected to reveal a new functional landscape in the human genome, where centromere proteins, transcriptional regulation, and spatial organization can be examined with base-level resolution across different stages of development and disease. Such studies will depend on innovative assembly methods of extremely long tandem repeats (ETRs), or satellite DNAs, paired with the development of new, orthogonal validation methods to ensure accuracy and completeness. This review reflects the progress in centromere genomics, credited by recent advancements in long-read sequencing and assembly methods. In doing so, I will discuss the challenges that remain and the promise for a new period of scientific discovery for satellite DNA biology and centromere function.

我们正在进入一个令人兴奋的基因组学时代，在这里端对端或“端粒到端粒”（T2T）可以提供真正完整，高质量的人类染色体装配。这一技术进步为将内源人类着丝粒区域纳入高分辨率，基于序列的研究提供了新的机会。这些新兴的参考图有望揭示人类基因组中的新功能格局，在那里可以以跨越发育和疾病不同阶段的碱基水平的分辨率检查着丝粒蛋白，转录调控和空间组织。此类研究将取决于极长的串联重复序列（ETR）或卫星DNA的创新组装方法，以及新的正交验证方法的开发，以确保准确性和完整性。这项审查反映了着丝粒基因组学的进展，这是由于长期阅读测序和组装方法的最新进展所致。在此过程中，我将讨论卫星DNA生物学和着丝粒功能的新科学发现所面临的挑战和前景。