美国加州大学圣地亚哥分校Pavel A. Pevzner研究小组实现对长读易错着丝粒的自动组装。相关论文于2020年7月14日在线发表在《自然—生物技术》杂志上。

研究人员报道了使用容易出错的长读进行着丝粒组装的centroFlye算法，并将其应用于在6号和X号染色体上组装人着丝粒。分析结果揭示了人类X着丝粒人工重建中的假定断点，证明了人X染色体被划分为重复的亚族，并初步了解着丝粒的进化。研究人员认为，centroFlye可用于自动消除参考人类基因组中剩余的数百万碱基缺口。

据介绍，着丝粒变异与癌症和不孕症有关，但是着丝粒序列包含多个串联重复序列，并且只能通过容易出错的长序列进行手工组装。

附：英文原文

Title: Automated assembly of centromeres from ultra-long error-prone reads

Author: Andrey V. Bzikadze, Pavel A. Pevzner

Issue&Volume: 2020-07-14

Abstract: Centromeric variation has been linked to cancer and infertility, but centromere sequences contain multiple tandem repeats and can only be assembled manually from long error-prone reads. Here we describe the centroFlye algorithm for centromere assembly using long error-prone reads, and apply it to assemble human centromeres on chromosomes 6 and X. Our analyses reveal putative breakpoints in the manual reconstruction of the human X centromere, demonstrate that human X chromosome is partitioned into repeat subfamilies and provide initial insights into centromere evolution. We anticipate that centroFlye could be applied to automatically close remaining multimegabase gaps in the reference human genome. 

DOI: 10.1038/s41587-020-0582-4

Source: https://www.nature.com/articles/s41587-020-0582-4