摘要
The significance of DNA sequencing in advancing medicalresearch,improving healthcare practices,and enhancing ourunderstanding of human evolution cannot be overstated.This yearmarks the 20th anniversary of the completion of the Human Genome Project(HGP)in 2003,with the draft human genome reference published in 2001[1,2].However,even with the latesthuman reference genome,GRCh38,there remain gaps totalingapprox.150 Mb,involving complex sequence in the pericentromeric and subtelomeric regions,as well as recent segmentalduplications and both ampliconic gene and ribosomal DNA(rDNA)arrays[3].A groundbreaking achievement was recently accomplished by the Telomere-to-Telomere(T2T)consortium whosuccessfully closed the remaining gaps and completed the firstend-to-end assembly of a human haploid genome,known as T2TCHM13[3].
作者
王博
党宁馨
杨晓飞
徐书华
叶凯
Bo Wang;Ningxin Dang;Xiaofei Yang;Shuhua Xu;Kai Ye(School of Automation Science and Engineering,Faculty of Electronic and Information Engineering,Xi’an Jiaotong University,Xi’an 710049,China;MOE Key Lab for Intelligent Networks&Networks Security,Faculty of Electronic and Information Engineering,Xi’an Jiaotong University,Xi’an 710049,China;Genome Institute,the First Affiliated Hospital of Xi’an Jiaotong University,Xi’an 710061,China;School of Computer Science and Technology,Faculty of Electronic and Information Engineering,Xi’an Jiaotong University,Xi’an 710049,China;State Key Laboratory of Genetic Engineering,Human Phenome Institute,Zhangjiang Fudan International Innovation Center,Center for Evolutionary Biology,School of Life Sciences,Fudan University,Shanghai 200032,China;Ministry of Education Key Laboratory of Contemporary Anthropology,Collaborative Innovation Center for Genetics and Development,Fudan University,Shanghai 200032,China;Department of Liver Surgery and Transplantation,Liver Cancer Institute,Zhongshan Hospital,Fudan University,Shanghai 200032,China;School of Life Science and Technology,Shanghai Tech University,Shanghai 201210,China)
基金
supported by the National Key R&D Program of China(2022YFC3400300)
the National Natural Science Foundation of China(32125009,32070663,32200510,32288101,32030020,and 62172325)
the Key Construction Program of the National‘‘985”Project。
