人类(泛)基因组计划研究进展

Research on the Human Pangenome Project

人类参考基因组是人类遗传学中广泛使用的资源,目前正在进行一次重大更新。人类泛基因组计划的目标是创建一个更复杂、完整的人类参考基因组。关注从人类基因组计划向人类泛基因组计划的转变过程,从人类基因组计划和人类泛基因组计划两个阶段比较人种侧重类型和数目以及测序技术和算法的差异,并总结人类泛基因组计划采取的具体措施,以增加样本中人种的多样性和填补染色体上的缺失,有望开发真实且具有代表性的全球参考资源。

The human reference genome is one of the most extensively used resources in human genetics and is currently undergoing a significant update.The Human Pangenome Project aims to construct a more complex and comprehensive reference genome.This paper highlights the significant transition from the Human Genome Project to the Human Pangenome Project.Through a thorough analysis of both projects,taking note of the differences in the number and perspective of ethnic groups,sequencing procedures,and algorithms,as well as the practical methods the Human Pangenome Project is implementing to enhance the diversity of sample ethnicities and bridge gaps in chromosomes,a promising possibility to develop real and representative global reference human pangenome reference is on the horizon.