常染色质
基因组
人类基因组
端粒
遗传学
生物
着丝粒
基因组计划
序列(生物学)
异染色质
计算生物学
节段重复
染色体
基因
基因密度
基因家族
作者
Sergey Nurk,Sergey Koren,Arang Rhie,Mikko Rautiainen,Andrey V. Bzikadze,Alla Mikheenko,Mitchell R. Vollger,Nicolas Altemose,Lev Uralsky,Ariel Gershman,Sergey Aganezov,Savannah J. Hoyt,Mark Diekhans,Glennis A. Logsdon,Michael Alonge,Stylianos E. Antonarakis,Matthew Borchers,Gerard G. Bouffard,Shelise Brooks,Gina V. Caldas
出处
期刊:Science
[American Association for the Advancement of Science]
日期:2022-03-31
卷期号:376 (6588): 44-53
被引量:2097
标识
DOI:10.1126/science.abj6987
摘要
Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion–base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.
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