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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 ; 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

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6588), p.44-53 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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Título:
The complete sequence of a human genome
Autor: 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 ; 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
Assuntos: Cell Line ; Chromosomes, Artificial, Bacterial - genetics ; Chromosomes, Human - genetics ; Genome, Human ; Genomes ; Human Genome Project ; Humans ; Nucleotide sequence ; Reference Values ; Sequence Analysis, DNA - standards
É parte de: Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6588), p.44-53
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
These authors contributed equally to this work
Present address: Oxford Nanopore Technologies Inc.; Lexington, MA, USA
This manuscript has been accepted for publication in Science. This version has not undergone final editing. Please refer to the complete version of record at http://www.sciencemag.org/. The manuscript may not be reproduced or used in any manner that does not fall within the fair use provisions of the Copyright Act without the prior, written permission of AAAS.
Author contributions: Analysis teams (leads*): Assembly: SN*, SK*, MR*, MA, HC, CSC, RD, EG, MKi, MKo, HL, TM, EWM, IS, BPW, AW, AMP. Acrocentrics: AMP*, JLG*, MR, SEA, MB, RD, LGL, TP. Validation: AR*, AVB*, AM*, MA*, AMM*, KS*, WC, LGL, TD, GF, AF, KH, CJ, EDJ, DP, VAS, YS, BAS, FTN, JT, JMDW, AMP. Segmental duplications: MRV*, EEE*, SN, SK, MD, PCD, AG, GAL, DP, CJS, DCS, MYD, WT, KHM, AMP. Satellite annotation: NA*, IAA*, KHM*, AVB, LU, TD, LGL, PAP, EIR, ASt, BAS, AMP. Epigenetics: AG*, WT*, SK, AR, MRV, NA, SJH, GAL, GVC, MCS, RJO, EEE, KHM, AMP. Variants: SA*, DCS*, SMY*, SZ*, RCM*, MYD*, JMZ*, MCS*, NFH, MKi, JM, DEM, NDO, JAR, FJS, KS, ASh, JW, CX, AMP. Repeat annotation: SJH*, RJO*, AG, PGSG, GAH, LGL, AFAS, JMS. Gene annotation: MD*, MH*, ASh*, SN, SK, PCD, ITF, SLS, FTN, AMP. Browsers: MD*, NCC, PK. Data generation: SJH, GGB, SYB, GVC, RSF, TAGL, IMH, MWH, MJ, JK, VVM, JCM, BP, PP, ACY, US, MYD, JLG, RJO, WT, EEE, KHM, AMP. Computational resources: CSC, AF, RJO, MCS, KHM, AMP. Manuscript draft: AMP. Figures: SK, SN, AMP, AR. Editing: AMP, SN, SK, AR, EEE, KHM, with the assistance of all authors. Supplement: SN, SK, with the assistance of the working groups. Supervision: RCM, MYD, IAA, JLG, RJO, WT, JMZ, MCS, EEE, KHM, AMP. Conceptualization: EEE, KHM, AMP.
Descrição: 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.
Editor: United States: The American Association for the Advancement of Science
Idioma: Inglês

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The complete sequence of a human genome

United States: The American Association for the Advancement of Science

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