The complete sequence of a human genome
Nurk, Sergey Koren, Sergey Rhie, Arang Rautiainen, Mikko Bzikadze, Andrey V Mikheenko, Alla Vollger, Mitchell R Altemose, Nicolas Uralsky, Lev Gershman, Ariel
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Authors
Koren, Sergey
Rhie, Arang
Rautiainen, Mikko
Bzikadze, Andrey V
Mikheenko, Alla
Vollger, Mitchell R
Altemose, Nicolas
Uralsky, Lev
Gershman, Ariel
Aganezov, Sergey
Hoyt, Savannah J
Diekhans, Mark
Logsdon, Glennis A
Alonge, Michael
Antonarakis, Stylianos E
Borchers, Matthew
Bouffard, Gerard G
Brooks, Shelise Y
Caldas, Gina V
Chen, Nae-Chyun
Cheng, Haoyu
Chin, Chen-Shan
Chow, William
de Lima, Leonardo G
Dishuck, Philip C
Durbin, Richard
Dvorkina, Tatiana
Fiddes, Ian T
Formenti, Giulio
Fulton, Robert S
Fungtammasan, Arkarachai
Garrison, Erik
Grady, Patrick G S
Graves-Lindsay, Tina A
Hall, Ira M
Hansen, Nancy F
Hartley, Gabrielle A
Haukness, Marina
Howe, Kerstin
Hunkapiller, Michael W
Jain, Chirag
Jain, Miten
Jarvis, Erich D
Kerpedjiev, Peter
Kirsche, Melanie
Kolmogorov, Mikhail
Korlach, Jonas
Kremitzki, Milinn
Li, Heng
Maduro, Valerie V
Marschall, Tobias
McCartney, Ann M
McDaniel, Jennifer
Miller, Danny E
Mullikin, James C
Myers, Eugene W
Olson, Nathan D
Paten, Benedict
Peluso, Paul
Pevzner, Pavel A
Porubsky, David
Potapova, Tamara
Rogaev, Evgeny I
Rosenfeld, Jeffrey A
Salzberg, Steven L
Schneider, Valerie A
Sedlazeck, Fritz J
Shafin, Kishwar
Shew, Colin J
Shumate, Alaina
Sims, Ying
Smit, Arian F A
Soto, Daniela C
Sović, Ivan
Storer, Jessica M
Streets, Aaron
Sullivan, Beth A
Thibaud-Nissen, Françoise
Torrance, James
Wagner, Justin
Walenz, Brian P
Wenger, Aaron
Wood, Jonathan M D
Xiao, Chunlin
Yan, Stephanie M
Young, Alice C
Zarate, Samantha
Surti, Urvashi
McCoy, Rajiv C
Dennis, Megan Y
Alexandrov, Ivan A
Gerton, Jennifer L
O'Neill, Rachel J
Timp, Winston
Zook, Justin M
Schatz, Michael C
Eichler, Evan E
Miga, Karen H
Phillippy, Adam M
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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.
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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 NC, Cheng H, Chin CS, 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. doi: 10.1126/science.abj6987. Epub 2022 Mar 31. PMID: 35357919; PMCID: PMC9186530.