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; 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; Lima, Leonardo G de; 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, J; Miller, Danny E; Mullikin, James C; Myers, Eugene W; Olson, Nathan D; Paten, Benedict; Peluso, Paul; Pevzner, Pavel; 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, Francoise; Torrance, James; Wagner, Justin; Walenz, Brian; Wenger, Aaron M; Wood, Jonathan; 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

doi:10.1126/science.abj6987

Local TagsRelease HistoryDetailsSummary

The complete sequence of a human genome.

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., et al. (2022). The complete sequence of a human genome. Science (New York, N.Y.), 376(6588), 44-53. doi:10.1126/science.abj6987.

Item is Released

show all hide all

Basic

show hide

Item Permalink: https://hdl.handle.net/21.11116/0000-000B-038D-3 Version Permalink: https://hdl.handle.net/21.11116/0000-000B-038E-2

Genre: Journal Article

Files

show Files

Locators

show

Creators

show

hide

Creators:
Nurk, Sergey, Author
Koren, Sergey, Author
Rhie, Arang, Author
Rautiainen, Mikko, Author
Bzikadze, Andrey V, Author
Mikheenko, Alla, Author
Vollger, Mitchell R, Author
Altemose, Nicolas, Author
Uralsky, Lev, Author
Gershman, Ariel, Author
Aganezov, Sergey, Author
Hoyt, Savannah J, Author
Diekhans, Mark, Author
Logsdon, Glennis A, Author
Alonge, Michael, Author
Antonarakis, Stylianos E, Author
Borchers, Matthew, Author
Bouffard, Gerard G, Author
Brooks, Shelise Y, Author
Caldas, Gina V, Author
Chen, Nae-Chyun, AuthorCheng, Haoyu, AuthorChin, Chen-Shan, AuthorChow, William, AuthorLima, Leonardo G de, AuthorDishuck, Philip C, AuthorDurbin, Richard, AuthorDvorkina, Tatiana, AuthorFiddes, Ian T, AuthorFormenti, Giulio, AuthorFulton, Robert S, AuthorFungtammasan, Arkarachai, AuthorGarrison, Erik, AuthorGrady, Patrick G S, AuthorGraves-Lindsay, Tina A, AuthorHall, Ira M, AuthorHansen, Nancy F, AuthorHartley, Gabrielle A, AuthorHaukness, Marina, AuthorHowe, Kerstin, AuthorHunkapiller, Michael W, AuthorJain, Chirag, AuthorJain, Miten, AuthorJarvis, Erich D, AuthorKerpedjiev, Peter, AuthorKirsche, Melanie, AuthorKolmogorov, Mikhail, AuthorKorlach, Jonas, AuthorKremitzki, Milinn, AuthorLi, Heng, AuthorMaduro, Valerie V, AuthorMarschall, Tobias, AuthorMcCartney, Ann M, AuthorMcDaniel, J, AuthorMiller, Danny E, AuthorMullikin, James C, AuthorMyers, Eugene W¹, Author Olson, Nathan D, AuthorPaten, Benedict, AuthorPeluso, Paul, AuthorPevzner, Pavel, AuthorPorubsky, David, AuthorPotapova, Tamara, AuthorRogaev, Evgeny I, AuthorRosenfeld, Jeffrey A, AuthorSalzberg, Steven L, AuthorSchneider, Valerie A, AuthorSedlazeck, Fritz J, AuthorShafin, Kishwar, AuthorShew, Colin J, AuthorShumate, Alaina, AuthorSims, Ying, AuthorSmit, Arian F A, AuthorSoto, Daniela C, AuthorSović, Ivan, AuthorStorer, Jessica M, AuthorStreets, Aaron, AuthorSullivan, Beth A, AuthorThibaud-Nissen, Francoise, AuthorTorrance, James, AuthorWagner, Justin, AuthorWalenz, Brian, AuthorWenger, Aaron M, AuthorWood, Jonathan, AuthorXiao, Chunlin, AuthorYan, Stephanie M, AuthorYoung, Alice C, AuthorZarate, Samantha, AuthorSurti, Urvashi, AuthorMcCoy, Rajiv C, AuthorDennis, Megan Y, AuthorAlexandrov, Ivan A, AuthorGerton, Jennifer L, AuthorO'Neill, Rachel J, AuthorTimp, Winston, AuthorZook, Justin M, AuthorSchatz, Michael C, AuthorEichler, Evan E, AuthorMiga, Karen H, AuthorPhillippy, Adam M, Author more..

Affiliations:
1Max Planck Institute for Molecular Cell Biology and Genetics, Max Planck Society, ou_2340692

Content

show

hide

Free keywords: -

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.

Details

show

hide

Language(s):

Dates: Date issued: 2022-04-01

Publication Status: Issued

Pages: -

Publishing info: -

Table of Contents: -

Rev. Type: -

Identifiers: DOI: 10.1126/science.abj6987
Other: cbg-8333
PMID: 35357919

Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show

hide

Title: Science (New York, N.Y.)

Other : Science

Source Genre: Journal

Creator(s):

Affiliations:

Publ. Info: -

Pages: - Volume / Issue: 376 (6588) Sequence Number: - Start / End Page: 44 - 53 Identifier: -