The complete sequence of a human genome.

TitleThe complete sequence of a human genome.
Publication TypeJournal Article
Year of Publication2022
AuthorsNurk, 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
JournalScience
Volume376
Issue6588
Pagination44-53
Date Published2022 Apr
ISSN1095-9203
KeywordsCell Line, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Genome, Human, Human Genome Project, Humans, Reference Values, Sequence Analysis, DNA
Abstract

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.
DOI10.1126/science.abj6987
Alternate JournalScience
PubMed ID35357919
PubMed Central IDPMC9186530
Grant ListU01 HG010961 / HG / NHGRI NIH HHS / United States
R35 GM130151 / GM / NIGMS NIH HHS / United States
DP2 MH119424 / MH / NIMH NIH HHS / United States
R21 CA240199 / CA / NCI NIH HHS / United States
Z99 HG999999 / ImNIH / Intramural NIH HHS / United States
U24 HG009081 / HG / NHGRI NIH HHS / United States
R21 CA238758 / CA / NCI NIH HHS / United States
U01 HG010971 / HG / NHGRI NIH HHS / United States
R01 GM123312 / GM / NIGMS NIH HHS / United States
/ WT_ / Wellcome Trust / United Kingdom
UM1 HG008898 / HG / NHGRI NIH HHS / United States
R01 HG002385 / HG / NHGRI NIH HHS / United States
ZIA HG200398 / ImNIH / Intramural NIH HHS / United States
/ HHMI / Howard Hughes Medical Institute / United States
R01 GM124041 / GM / NIGMS NIH HHS / United States
U24 HG010263 / HG / NHGRI NIH HHS / United States
R01 HG006677 / HG / NHGRI NIH HHS / United States
R35 GM133747 / GM / NIGMS NIH HHS / United States
T32 GM007445 / GM / NIGMS NIH HHS / United States
R01 HG010040 / HG / NHGRI NIH HHS / United States
U41 HG010972 / HG / NHGRI NIH HHS / United States
F31 HG011205 / HG / NHGRI NIH HHS / United States
F32 GM134558 / GM / NIGMS NIH HHS / United States
R01 HG010169 / HG / NHGRI NIH HHS / United States
R01 GM129263 / GM / NIGMS NIH HHS / United States
U41 HG007234 / HG / NHGRI NIH HHS / United States
U01 CA253481 / CA / NCI NIH HHS / United States
U24 HG007234 / HG / NHGRI NIH HHS / United States
R01 HG011274 / HG / NHGRI NIH HHS / United States
U24 HG006620 / HG / NHGRI NIH HHS / United States
R01 HG002939 / HG / NHGRI NIH HHS / United States
R01 AG054712 / AG / NIA NIH HHS / United States
R01 HG009190 / HG / NHGRI NIH HHS / United States
R01 HG010485 / HG / NHGRI NIH HHS / United States
R24 DK106766 / DK / NIDDK NIH HHS / United States

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