The complete sequence of a human genome

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…

• NS
  National Science Foundation

  Awards: 1732253, 1627442, 1643825, 1613806, 1758800
• HH
  Howard Hughes Medical Institute
• DR
  Damon Runyon Cancer Research Foundation
• CI
  Connecticut Innovations
• SI
  Stowers Institute for Medical Research
• UO
  University of Pittsburgh
• AW
  Amazon Web Services
• ON
  Oxford Nanopore Technologies
• SN
  Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

  Award: 30039
• M
  Max-Planck-Gesellschaft
• SP
  Saint Petersburg State University
• RS
  Russian Science Foundation

  Awards: 19-75-30039, 075-10-2020-116
• NI
  National Institutes of Health

  Awards: R24DK106766, U01HG010971, R01HG006677, U41HG007234, R01HG011274, R01HG009190, UM1HG008898, R01HG010040, F32GM134558, R01HG010485, R35GM133747, U24HG006620, R01HG010169, U24HG010263, U01CA253481, U41HG010972, R01HG002385, U01HG010961, R01GM123312, U24HG009081
• NI
  National Institute of Standards and Technology
• NH
  National Human Genome Research Institute

  Awards: U01HG010971, R01HG009190, R01HG011274, R01HG006677, R01HG010485, U24HG006620, U41HG010972, R01HG002385, U01HG010961, F31HG011205, R01HG010040, U41HG007234, UM1HG008898, U24HG010263
• NO
  NIH Office of the Director
• UN
  U.S. National Library of Medicine
• CF
  Common Fund