T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese  

作　　者：Yukun He Yanan Chu Shuming Guo Jiang Hu Ran Li Yali Zheng Xinqian Ma Zhenglin Du Lili Zhao Wenyi Yu Jianbo Xue Wenjie Bian Feifei Yang Xi Chen Pingan Zhang Rihan Wu Yifan Ma Changjun Shao Jing Chen Jian Wang Jiwei Li Jing Wu Xiaoyi Hu Qiuyue Long Mingzheng Jiang Hongli Ye Shixu Song Guangyao Li Yue Wei Yu Xu Yanliang Ma Yanwen Chen Keqiang Wang Jing Bao Wen Xi Fang Wang Wentao Ni Moqin Zhang Yan Yu Shengnan Li Yu Kang Zhancheng Gao 

机构地区：[1]Department of Respiratory and Critical Care Medicine,Peking University People’s Hospital,Beijing 100044,China [2]CAS Key Laboratory of Genome Sciences and Information,Beijing Institute of Genomics,Chinese Academy of Sciences and China National Center for Bioinformation,Beijing 100101,China [3]Linfen Clinical Medicine Research Center,Linfen 041000,China [4]Institute of Chest and Lung Diseases,Shanxi Medical University,Taiyuan 030001,China [5]GrandOmics Biosciences Co.,Ltd,Wuhan 430076,China [6]Beijing Key Laboratory of Genome and Precision Medicine Technologies,Beijing 100101,China [7]Department of Respiratory,Critical Care and Sleep Medicine,Xiang’an Hospital of Xiamen University,School of Medicine,Xiamen University,Xiamen 361101,China [8]Institute of PSI Genomics,Wenzhou 325024,China [9]Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China [10]University of Chinese Academy of Sciences,Beijing 100490,China

出　　处：《Genomics, Proteomics & Bioinformatics》2023年第6期1085-1100,共16页基因组蛋白质组与生物信息学报（英文版）

基　　金：supported by the Science and Technology Research Project of Henan(Grant No.232102311003);the National Natural Science Foundation of China(Grant No.U1804282)。

摘　　要：Since its initial release in 2001,the human reference genome has undergone continuous improvement in quality,and the recently released telomere-to-telomere(T2T)version-T2T-CHM13—reaches its highest level of continuity and accuracy after 20 years of effort by working on a simplified,nearly homozygous genome of a hydatidiform mole cell line.Here,to provide an authentic complete diploid human genome reference for the Han Chinese,the largest population in the world,we assembled the genome of a male Han Chinese individual,T2T-YAO,which includes T2T assemblies of all the 22+X+M and 22+Y chromosomes in both haploids.The quality of T2T-YAO is much better than those of all currently available diploid assemblies,and its haploid version,T2T-YAO-hp,generated by selecting the better assembly for each autosome,reaches the top quality of fewer than one error per 29.5 Mb,even higher than that of T2T-CHM13.Derived from an individual living in the aboriginal region of the Han population,T2T-YAO shows clear ancestry and potential genetic continuity from the ancient ancestors.Each haplotype of T2TYAO possesses330-Mb exclusive sequences,3100 unique genes,and tens of thousands of nucleotide and structural variations as compared with CHM13,highlighting the necessity of a population-stratified reference genome.The construction of T2T-YAO,an accurate and authentic representative of the Chinese population,would enable precise delineation of genomic variations and advance our understandings in the hereditability of diseases and phenotypes,especially within the context of the unique variations of the Chinese population.

关 键 词：Referencegenome Telomere-to-telomere assembly Han Chinese Haplotype-resolved assembly DIPLOID 

分 类 号：Q987[生物学—遗传学]