The Telomere-to-Telomere (T2T) Consortium has recently announced the assembly and analysis of the first complete human genome assembly. The use of the functionally haploid CHM13hTERT cell line (CHM13), originally isolated from a hydatidiform mole, as well as ultra-long Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio) high-fidelity (HiFi) data, has resulted in the gapless assemblies of all 22 autosomes plus Chromosome X, including the centromeric regions, the short arms of five acrocentric human chromosomes, and almost 200 million base pairs of novel sequence, potentially harboring protein-coding genes.

中文翻译：

---

第一次完整的人类基因组组装的意义

端粒到端粒（T2T）联盟最近宣布了第一个完整的人类基因组组装的组装和分析。使用最初从葡萄胎中分离的功能性单倍体 CHM13hTERT 细胞系 (CHM13) 以及超长牛津纳米孔技术 (ONT) 和太平洋生物科学 (PacBio) 高保真 (HiFi) 数据，导致所有 22 个常染色体和 X 染色体的无间隙组装，包括着丝粒区域、五个近端着丝粒人类染色体的短臂，以及近 2 亿个碱基对的新序列，可能含有蛋白质编码基因。