The complete sequence of a human genome

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

doi:10.1126/science.abj6987

The complete sequence of a human genome

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

McDonnell Genome Institute (MGI)

Research output: Contribution to journal › Article › peer-review

1348 Scopus citations

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.

Original language	English
Pages (from-to)	44-53
Number of pages	10
Journal	Science
Volume	376
Issue number	6588
DOIs	https://doi.org/10.1126/science.abj6987
State	Published - Apr 1 2022

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10.1126/science.abj6987

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Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., Aganezov, S., Hoyt, S. J., Diekhans, M., Logsdon, G. A., Alonge, M., Antonarakis, S. E., Borchers, M., Bouffard, G. G., Brooks, S. Y., ... Phillippy, A. M. (2022). The complete sequence of a human genome. Science, 376(6588), 44-53. https://doi.org/10.1126/science.abj6987

@article{19119b390d694433891d989bcfd841e0,

title = "The complete sequence of a human genome",

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.",

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

note = "Publisher Copyright: Copyright {\textcopyright} 2022 The Authors.",

year = "2022",

month = apr,

day = "1",

doi = "10.1126/science.abj6987",

language = "English",

volume = "376",

pages = "44--53",

journal = "Science",

issn = "0036-8075",

number = "6588",

}

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, Sovi, 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 2022, 'The complete sequence of a human genome', Science, vol. 376, no. 6588, pp. 44-53. https://doi.org/10.1126/science.abj6987

TY - JOUR

T1 - The complete sequence of a human genome

AU - Nurk, Sergey

AU - Koren, Sergey

AU - Rhie, Arang

AU - Rautiainen, Mikko

AU - Bzikadze, Andrey V.

AU - Mikheenko, Alla

AU - Vollger, Mitchell R.

AU - Altemose, Nicolas

AU - Uralsky, Lev

AU - Gershman, Ariel

AU - Aganezov, Sergey

AU - Hoyt, Savannah J.

AU - Diekhans, Mark

AU - Logsdon, Glennis A.

AU - Alonge, Michael

AU - Antonarakis, Stylianos E.

AU - Borchers, Matthew

AU - Bouffard, Gerard G.

AU - Brooks, Shelise Y.

AU - Caldas, Gina V.

AU - Chen, Nae Chyun

AU - Cheng, Haoyu

AU - Chin, Chen Shan

AU - Chow, William

AU - de Lima, Leonardo G.

AU - Dishuck, Philip C.

AU - Durbin, Richard

AU - Dvorkina, Tatiana

AU - Fiddes, Ian T.

AU - Formenti, Giulio

AU - Fulton, Robert S.

AU - Fungtammasan, Arkarachai

AU - Garrison, Erik

AU - Grady, Patrick G.S.

AU - Graves-Lindsay, Tina A.

AU - Hall, Ira M.

AU - Hansen, Nancy F.

AU - Hartley, Gabrielle A.

AU - Haukness, Marina

AU - Howe, Kerstin

AU - Hunkapiller, Michael W.

AU - Jain, Chirag

AU - Jain, Miten

AU - Jarvis, Erich D.

AU - Kerpedjiev, Peter

AU - Kirsche, Melanie

AU - Kolmogorov, Mikhail

AU - Korlach, Jonas

AU - Kremitzki, Milinn

AU - Li, Heng

AU - Maduro, Valerie V.

AU - Marschall, Tobias

AU - McCartney, Ann M.

AU - McDaniel, Jennifer

AU - Miller, Danny E.

AU - Mullikin, James C.

AU - Myers, Eugene W.

AU - Olson, Nathan D.

AU - Paten, Benedict

AU - Peluso, Paul

AU - Pevzner, Pavel A.

AU - Porubsky, David

AU - Potapova, Tamara

AU - Rogaev, Evgeny I.

AU - Rosenfeld, Jeffrey A.

AU - Salzberg, Steven L.

AU - Schneider, Valerie A.

AU - Sedlazeck, Fritz J.

AU - Shafin, Kishwar

AU - Shew, Colin J.

AU - Shumate, Alaina

AU - Sims, Ying

AU - Smit, Arian F.A.

AU - Soto, Daniela C.

AU - Sovi, Ivan

AU - Storer, Jessica M.

AU - Streets, Aaron

AU - Sullivan, Beth A.

AU - Thibaud-Nissen, Françoise

AU - Torrance, James

AU - Wagner, Justin

AU - Walenz, Brian P.

AU - Wenger, Aaron

AU - Wood, Jonathan M.D.

AU - Xiao, Chunlin

AU - Yan, Stephanie M.

AU - Young, Alice C.

AU - Zarate, Samantha

AU - Surti, Urvashi

AU - McCoy, Rajiv C.

AU - Dennis, Megan Y.

AU - Alexandrov, Ivan A.

AU - Gerton, Jennifer L.

AU - O'Neill, Rachel J.

AU - Timp, Winston

AU - Zook, Justin M.

AU - Schatz, Michael C.

AU - Eichler, Evan E.

AU - Miga, Karen H.

AU - Phillippy, Adam M.

PY - 2022/4/1

Y1 - 2022/4/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85127401730&partnerID=8YFLogxK

U2 - 10.1126/science.abj6987

DO - 10.1126/science.abj6987

M3 - Article

C2 - 35357919

AN - SCOPUS:85127401730

SN - 0036-8075

VL - 376

SP - 44

EP - 53

JO - Science

JF - Science

IS - 6588

ER -

The complete sequence of a human genome

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