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

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 haploid.The quality of T2T-YAO is much better than all currently available diploid assemblies,and its hap-loid 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 T2T-YAO possesses~330-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,a truly 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,espe-cially within the context of the unique variations of the Chinese population.

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作者 Yukun He [1] Yanan Chu [2] Shuming Guo [3] Jiang Hu [4] Ran Li [5] Yali Zheng [6] Xinqian Ma [5] Zhenglin Du [7] Lili Zhao [5] Wenyi Yu [5] Jianbo Xue [5] Wenjie Bian [5] Feifei Yang [5] Xi Chen [5] Pingan Zhang [5] Rihan Wu [5] Yifan Ma [5] Changjun Shao [2] Jing Chen [2] Jian Wang [2] Jiwei Li [6] Jing Wu [6] Xiaoyi Hu [6] Qiuyue Long [6] Mingzheng Jiang [6] Hongli Ye [6] Shixu Song [6] Guangyao Li [8] Yue Wei [8] Yu Xu [9] Yanliang Ma [5] Yanwen Chen [5] Keqiang Wang [5] Jing Bao [5] Wen Xi [5] Fang Wang [5] Wentao Ni [5] Moqin Zhang [5] Yan Yu [5] Shengnan Li [5] Yu Kang [10] Zhancheng Gao [11] 学术成果认领
作者单位 Department of Respiratory and Critical Care Medicine,Peking University People's Hospital,Beijing 100044,China [1] 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 [2] Linfen Clinical Medicine Research Center,Linfen 041000,China;Institute of Chest and Lung Diseases,Shanxi Medical University,Taiyuan 030001,China [3] GrandOmics Biosciences Co.,Ltd,Wuhan 430076,China [4] Department of Respiratory and Critical Care Medicine,Peking University People's Hospital,Beijing 100044,China;Beijing Key Laboratory of Genome and Precision Medicine Technologies,Beijing 100101,China [5] Department of Respiratory,Critical Care and Sleep Medicine,Xiang'an Hospital of Xiamen University,School of Medicine,Xiamen University,Xiamen 361101,China [6] Institute of PSI Genomics,Wenzhou 325024,China [7] Linfen Clinical Medicine Research Center,Linfen 041000,China [8] Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China [9] 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;University of Chinese Academy of Sciences,Beijing 100190,China [10] Department of Respiratory and Critical Care Medicine,Peking University People's Hospital,Beijing 100044,China;Institute of Chest and Lung Diseases,Shanxi Medical University,Taiyuan 030001,China;Beijing Key Laboratory of Genome and Precision Medicine Technologies,Beijing 100101,China [11]
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DOI 10.1016/j.gpb.2023.08.001
发布时间 2024-04-03(万方平台首次上网日期,不代表论文的发表时间)
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