The complete sequence of a human genome.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • April 2022

Published In

Volume / Issue

  • 376 / 6588

Start / End Page

  • 44 - 53

PubMed ID

  • 35357919

Pubmed Central ID

  • PMC9186530

Electronic International Standard Serial Number (EISSN)

  • 1095-9203

Digital Object Identifier (DOI)

  • 10.1126/science.abj6987

Language

  • eng

Conference Location

  • United States