Telomere-to-telomere assembly of a complete human X chromosome

Abstract After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist 1,2 . Here we present a human genome assembly that surpasses the continuity of GRCh38 2 , along with a gapless, telomere-to-telomere assembly of a human chromosome. This was enabled by high-coverage, ultra-long-read nanopore sequencing of the complete hydatidiform mole CHM13 genome, combined with complementary technologies for quality improvement and validation. Focusing our efforts on the human X chromosome 3 , we reconstructed the centromeric satellite DNA…

• HH
  Howard Hughes Medical Institute
• WM
  W. M. Keck Foundation

  Award: DT06172015
• SI
  Stowers Institute for Medical Research
• WT
  Wellcome Trust
• NI
  National Institute for Health and Care Research
• DO
  Department of Health and Social Care
• KH
  Korea Health Industry Development Institute
• SR
  Surgical Reconstruction and Microbiology Research Centre
• NI
  National Institutes of Health

  Awards: GM007445, T32 GM007445, HG002385, HG010169, 1F32GM134558, R01 GM124041, 1U01HL137183, 2U41HG007234, R01CA181308, 5T32LM012419-04, NIH R01
• MR
  Medical Research Council

  Awards: MR/M501621/1, MR/J014370/1
• NH
  National Heart, Lung, and Blood Institute

  Awards: 1U01HL137183, NIH R01
• NH
  National Human Genome Research Institute

  Awards: HG010169, 1R21HG010548-01, HG009190, 2U41HG007234, U01 1U01HG010971, 1U01HG010971
• NO
  NIH Office of the Director
• NI
  National Institute of General Medical Sciences

  Awards: 1F32GM134558, GM007445, T32 GM007445
• UN
  U.S. National Library of Medicine

  Award: 5T32LM012419-04
• CF
  Common Fund