Title | The complete sequence of a human genome. |
Publication Type | Journal Article |
Year of Publication | 2022 |
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 |
Journal | Science |
Volume | 376 |
Issue | 6588 |
Pagination | 44-53 |
Date Published | 2022 Apr |
ISSN | 1095-9203 |
Keywords | Cell 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. |
DOI | 10.1126/science.abj6987 |
Alternate Journal | Science |
PubMed ID | 35357919 |
PubMed Central ID | PMC9186530 |
Grant List | U01 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 |
The complete sequence of a human genome.
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