The recent accomplishment of a truly complete human genome has afforded a new view of chromosome structure and function that was limited 30 years ago. Here, we discuss the expansion of knowledge from the early cytological studies of the genome to the current high resolution genomic, epigenetic, and functional maps that have been achieved by recent technology and computational advances. These studies have revealed unexpected complexities of genome organization and function and uncovered new views of fundamental chromosomal elements. Comprehensive genomic maps will enable accurate diagnosis of human diseases caused by altered chromosome structure and function, facilitate development of chromosome-based therapies, and shape the future of preventative medicine and healthcare.

中文翻译：

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T2T基因组学时代染色体结构和功能的扩展研究


最近完成的真正完整的人类基因组为染色体结构和功能提供了新的视角，而这在 30 年前是有限的。在这里，我们讨论从早期的基因组细胞学研究到当前通过最新技术和计算进步实现的高分辨率基因组、表观遗传和功能图谱的知识扩展。这些研究揭示了基因组组织和功能的意想不到的复杂性，并揭示了基本染色体元件的新观点。全面的基因组图谱将能够准确诊断由染色体结构和功能改变引起的人类疾病，促进基于染色体的疗法的开发，并塑造预防医学和医疗保健的未来。