Skip to main content
Journal cover image

The complete sequence of a human genome.

Publication ,  Journal Article
Nurk, S; Koren, S; Rhie, A; Rautiainen, M; Bzikadze, AV; Mikheenko, A; Vollger, MR; Altemose, N; Uralsky, L; Gershman, A; Aganezov, S; Chow, W ...
Published in: Science
April 2022

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 acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Science

DOI

EISSN

1095-9203

Publication Date

April 2022

Volume

376

Issue

6588

Start / End Page

44 / 53

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Reference Values
  • Humans
  • Human Genome Project
  • Genome, Human
  • General Science & Technology
  • Chromosomes, Human
  • Chromosomes, Artificial, Bacterial
  • Cell Line
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., … Phillippy, A. M. (2022). The complete sequence of a human genome. Science, 376(6588), 44–53. https://doi.org/10.1126/science.abj6987
Nurk, Sergey, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, et al. “The complete sequence of a human genome.Science 376, no. 6588 (April 2022): 44–53. https://doi.org/10.1126/science.abj6987.
Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, et al. The complete sequence of a human genome. Science. 2022 Apr;376(6588):44–53.
Nurk, Sergey, et al. “The complete sequence of a human genome.Science, vol. 376, no. 6588, Apr. 2022, pp. 44–53. Pubmed, doi:10.1126/science.abj6987.
Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, Vollger MR, Altemose N, Uralsky L, Gershman A, Aganezov S, Hoyt SJ, Diekhans M, Logsdon GA, Alonge M, Antonarakis SE, Borchers M, Bouffard GG, Brooks SY, Caldas GV, Chen N-C, Cheng H, Chin C-S, Chow W, de Lima LG, Dishuck PC, Durbin R, Dvorkina T, Fiddes IT, Formenti G, Fulton RS, Fungtammasan A, Garrison E, Grady PGS, Graves-Lindsay TA, Hall IM, Hansen NF, Hartley GA, Haukness M, Howe K, Hunkapiller MW, Jain C, Jain M, Jarvis ED, Kerpedjiev P, Kirsche M, Kolmogorov M, Korlach J, Kremitzki M, Li H, Maduro VV, Marschall T, McCartney AM, McDaniel J, Miller DE, Mullikin JC, Myers EW, Olson ND, Paten B, Peluso P, Pevzner PA, Porubsky D, Potapova T, Rogaev EI, Rosenfeld JA, Salzberg SL, Schneider VA, Sedlazeck FJ, Shafin K, Shew CJ, Shumate A, Sims Y, Smit AFA, Soto DC, Sović I, Storer JM, Streets A, Sullivan BA, Thibaud-Nissen F, Torrance J, Wagner J, Walenz BP, Wenger A, Wood JMD, Xiao C, Yan SM, Young AC, Zarate S, Surti U, McCoy RC, Dennis MY, Alexandrov IA, Gerton JL, O’Neill RJ, Timp W, Zook JM, Schatz MC, Eichler EE, Miga KH, Phillippy AM. The complete sequence of a human genome. Science. 2022 Apr;376(6588):44–53.
Journal cover image

Published In

Science

DOI

EISSN

1095-9203

Publication Date

April 2022

Volume

376

Issue

6588

Start / End Page

44 / 53

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Reference Values
  • Humans
  • Human Genome Project
  • Genome, Human
  • General Science & Technology
  • Chromosomes, Human
  • Chromosomes, Artificial, Bacterial
  • Cell Line