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人类参考基因组的过去和将来

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人类基因组计划得益于Sanger DNA测序技术的出现,使得人类参考基因组的草图得以产生.随着测序技术的发展和改进,人类参考基因组不断升级和完善,最新版本为GRCh38.p14.端粒到端粒(Telomere⁃to⁃Telomere,T2T)联盟使用大规模并行测序和单分子长读长测序技术完成了人类单倍体染色体的测序,这一成果可以作为新的参考依据.中国人完整二倍体基因组(CN1、YAO)的公布标志着参考基因组的进展.本文主要讨论人类参考基因组发展的历史过程、各个参考基因组版本情况与分析比较,并对其未来的发展趋势进行展望.
The past and future of the human reference genome
The Human Genome Project benefited greatly from the emergence of Sanger DNA se⁃quencing technology,allowing for the creation of a draft of the human reference genome.With advancements in sequencing technology,the human reference genome has been continuously updated and refined,with the most recent version being GRCh38.p14.The Telomere⁃to⁃Telomere(T2T)consortium used large⁃scale parallel sequencing and single⁃molecule long⁃read sequencing technology to sequence the human haploid chromo⁃somes,providing a new reference point.The publication of the complete diploid genome of a Chinese indi⁃vidual(CN1,YAO)signifies a milestone in the development of the reference genome.This article primarily focuses on the historical progression of the human reference genome,the status and analysis of various refer⁃ence genome versions,and potential future development trends.

Reference GenomeGRCh38CHM13CN1T2T-YAOPan-genome

汪洋、张咪、黄杰

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中国食品药品检定研究院,中国,北京 100050

参考基因组 GRCh38 CHM13 CN1 T2T⁃YAO 泛基因组

国家重点研发计划"生物与信息融合(BT+IT融合)"重点专项

2022YFF1202203

2024

分子诊断与治疗杂志
中山大学

分子诊断与治疗杂志

CSTPCD
影响因子:0.65
ISSN:1674-6929
年,卷(期):2024.16(10)