Open Access

Science

, volume 376 , issue 6588 , pages 44-53

The complete sequence of a human genome

Sergey Nurk ¹

Sergey Koren ¹

Arang Rhie ¹

Mikko Rautiainen ¹

Andrey Bzikadze ²

Alla Mikheenko ³

Mitchell R Vollger ⁴

Nicolas Altemose ⁵

Lev Uralsky ^{6, 7}

Ariel Gershman ⁸

Sergey Aganezov ⁹

Savannah J Hoyt ¹⁰

Mark Diekhans ¹¹

Glennis A Logsdon ⁴

Michael Alonge ⁹

Stylianos E. Antonarakis ¹²

Matthew Borchers ¹³

Gerard G Bouffard ¹⁴

Shelise Y Brooks ¹⁴

Gina V. Caldas ¹⁵

Nae Chyun Chen ⁹

Hao-Yu Cheng ^{16, 17}

Chen-Shan Chin ¹⁸

William Chow ¹⁹

Leonardo G De Lima ¹³

Philip C Dishuck ⁴

Richard L. Durbin ^{19, 20}

Tatiana Dvorkina ³

Ian T Fiddes ²¹

Giulio Formenti ^{22, 23}

Robert S. Fulton ²⁴

Arkarachai Fungtammasan ¹⁸

Erik Garrison ^{11, 25}

Patrick G S Grady ¹⁰

Tina Graves ²⁶

Ira M Hall ²⁷

Nancy Hansen ²⁸

Gabrielle A Hartley ¹⁰

Marina Haukness ¹¹

Kerstin Howe ¹⁹

Michael W Hunkapiller ²⁹

Chirag Jain ^{1, 30}

Miten Jain ¹¹

Erich D. Jarvis ^{22, 23}

Peter Kerpedjiev ³¹

Melanie Kirsche ⁹

Mikhail Kolmogorov ³²

Jonas Korlach ²⁹

Milinn Kremitzki ²⁶

Heng Li ^{16, 17}

Valerie V Maduro ³³

Tobias Marschall ³⁴

Ann M Mccartney ¹

Jennifer Mcdaniel ³⁵

Danny E. Miller ^{4, 36}

James M. Mullikin ^{14, 28}

E. W. Myers ³⁷

Nathan M Olson ³⁵

Benedict Paten ¹¹

Paul Peluso ²⁹

Pavel A. Pevzner ³²

David Porubsky ⁴

Tamara Potapova ¹³

Evgeny I Rogaev ^{6, 7, 38, 39}

Jeffrey A Rosenfeld ⁴⁰

Steven L. Salzberg ^{9, 41}

Valerie A Schneider ⁴²

Fritz J. Sedlazeck ⁴³

Kishwar Shafin ¹¹

Colin J Shew ⁴⁴

Alaina Shumate ⁴¹

Ying Sims ¹⁹

Arian F.A. Smit ⁴⁵

Daniela C. Soto ⁴⁴

Jonas Korlach ^{29, 46}

Jessica M Storer ⁴⁵

Aaron M. Streets ^{5, 47}

Beth A. Sullivan ⁴⁸

Françoise Thibaud-Nissen ⁴²

James W. Torrance ¹⁹

Justin Wagner ³⁵

Brian P. Walenz ¹

Aaron M Wenger ²⁹

Jonathan Wood ¹⁹

Chunlin Xiao ⁴²

Stephanie Yan ⁴⁹

Alice Young ¹⁴

Samantha Zarate ⁹

Urvashi Surti ⁵⁰

Rajiv McCoy ⁴⁹

Megan Y. Dennis ⁴⁴

Ivan A Alexandrov ^{3, 7, 51}

Jennifer L. Gerton ^{13, 52}

Richard F. O’Neill ¹⁰

Winston Timp ^{8, 41}

Justin M. Zook ³⁵

Michael C. Schatz ^{9, 49}

Evan E. Eichler ^{4, 53}

Karen H Miga ^{11, 54}

Adam M. Phillippy ¹

Hide authors affiliations Show authors affiliations: 54 affiliations

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. |

Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA. |

Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia. |

⁴

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. |

⁵

Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA. |

⁶

Sirius University of Science and Technology, Sochi, Russia. |

⁷

Vavilov Institute of General Genetics, Moscow, Russia. |

⁸

Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA. |

⁹

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA. |

¹⁰

Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA. |

¹¹

UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. |

¹²

University of Geneva Medical School, Geneva, Switzerland. |

¹³

Stowers Institute for Medical Research, Kansas City, MO, USA. |

¹⁴

NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. |

¹⁵

Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA. |

¹⁶

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. |

¹⁷

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. |

¹⁸

DNAnexus, Mountain View, CA, USA. |

¹⁹

Wellcome Sanger Institute, Cambridge, UK. |

²⁰

Department of Genetics, University of Cambridge, Cambridge, UK. |

²¹

Inscripta, Boulder, CO, USA. |

²²

Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA. |

²³

Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.

Rockefeller University

Howard Hughes Medical Institute

²⁴

Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. |

²⁵

University of Tennessee Health Science Center, Memphis, TN, USA. |

²⁶

McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA. |

²⁷

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. |

²⁸

Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. |

²⁹

Pacific Biosciences, Menlo Park, CA, USA. |

³⁰

Department of Computational and Data Sciences, Indian Institute of Science, Bangalore KA, India. |

³¹

Reservoir Genomics LLC, Oakland, CA, USA. |

³²

Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA. |

³³

Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. |

³⁴

Heinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany. |

³⁵

Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA. |

³⁶

Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA.

University of Washington

Seattle Children's Hospital

³⁷

Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany. |

³⁸

Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA. |

³⁹

Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia. |

⁴⁰

Cancer Institute of New Jersey, New Brunswick, NJ, USA. |

⁴¹

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA. |

⁴²

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.

United States National Library of Medicine

National Center for Biotechnology Information

⁴³

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. |

⁴⁴

Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA. |

⁴⁵

Institute for Systems Biology, Seattle, WA, USA. |

⁴⁶

Digital BioLogic d.o.o., Ivanić-Grad, Croatia. |

⁴⁷

Chan Zuckerberg Biohub, San Francisco, CA, USA. |

⁴⁸

Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA. |

⁴⁹

Department of Biology, Johns Hopkins University, Baltimore, MD, USA. |

⁵⁰

Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA. |

⁵¹

Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia. |

⁵²

Department of Biochemistry and Molecular Biology, University of Kansas Medical School, Kansas City, MO, USA. |

⁵³

Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.

University of Washington

Howard Hughes Medical Institute

⁵⁴

Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA. |

Publication type: Journal Article

Publication date: 2022-04-11

American Association for the Advancement of Science (AAAS)

Science

scimago Q1

wos Q1

SJR: 10.416

CiteScore: 48.4

Impact factor: 45.8

ISSN: 00368075, 10959203

DOI: 10.1126/science.abj6987

Copy DOI

PubMed ID: 35357919

Multidisciplinary

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.

Found

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Zakharova Galina

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Sechenov First Moscow State Medical University

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Ono Atsushi

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Nurk S. et al. The complete sequence of a human genome // Science. 2022. Vol. 376. No. 6588. pp. 44-53.

GOST all authors (up to 50) Copy

Nurk S. et al. The complete sequence of a human genome // Science. 2022. Vol. 376. No. 6588. pp. 44-53.

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BibTex (up to 50 authors) Copy

@article{2022_Nurk,

author = {Sergey Nurk and Sergey Koren and Arang Rhie and Mikko Rautiainen and Andrey Bzikadze and Alla Mikheenko and Mitchell R Vollger and Nicolas Altemose and Lev Uralsky and Ariel Gershman and Sergey Aganezov and Savannah J Hoyt and Mark Diekhans and Glennis A Logsdon and Michael Alonge and Stylianos E. Antonarakis and Matthew Borchers and Gerard G Bouffard and Shelise Y Brooks and Gina V. Caldas and Nae Chyun Chen and Hao-Yu Cheng and Chen-Shan Chin and William Chow and Leonardo G De Lima and Philip C Dishuck and Richard L. Durbin and Tatiana Dvorkina and Ian T Fiddes and Giulio Formenti and Robert S. Fulton and Arkarachai Fungtammasan and Erik Garrison and Patrick G S Grady and Tina Graves and Ira M Hall and Nancy Hansen and Gabrielle A Hartley and Marina Haukness and Kerstin Howe and Michael W Hunkapiller and Chirag Jain and Miten Jain and Erich D. Jarvis and Peter Kerpedjiev and Melanie Kirsche and Mikhail Kolmogorov and Jonas Korlach and Milinn Kremitzki and Heng Li and others},

title = {The complete sequence of a human genome},

journal = {Science},

year = {2022},

volume = {376},

publisher = {American Association for the Advancement of Science (AAAS)},

month = {apr},

url = {https://doi.org/10.1126/science.abj6987},

number = {6588},

pages = {44--53},

doi = {10.1126/science.abj6987}

}

MLA

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MLA Copy

Nurk, Sergey, et al. “The complete sequence of a human genome.” Science, vol. 376, no. 6588, Apr. 2022, pp. 44-53. https://doi.org/10.1126/science.abj6987.

Publisher

American Association for the Advancement of Science (AAAS)

Journal

Science

scimago Q1

wos Q1

SJR

10.416

CiteScore

48.4

Impact factor

45.8

ISSN

00368075 (Print)

10959203 (Electronic)

Profiles

Lev I Uralsky