The complete sequence of a human genome-Reference-Cited by-同舟云学术

The complete sequence of a human genome

Published:2022-04 Issue:6588 Volume:376 Page:44-53
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Nurk Sergey¹^ORCID,Koren Sergey¹^ORCID,Rhie Arang¹^ORCID,Rautiainen Mikko¹^ORCID,Bzikadze Andrey V.²^ORCID,Mikheenko Alla³,Vollger Mitchell R.⁴^ORCID,Altemose Nicolas⁵^ORCID,Uralsky Lev⁶⁷^ORCID,Gershman Ariel⁸^ORCID,Aganezov Sergey⁹^ORCID,Hoyt Savannah J.¹⁰^ORCID,Diekhans Mark¹¹^ORCID,Logsdon Glennis A.⁴^ORCID,Alonge Michael⁹^ORCID,Antonarakis Stylianos E.¹²^ORCID,Borchers Matthew¹³^ORCID,Bouffard Gerard G.¹⁴^ORCID,Brooks Shelise Y.¹⁴,Caldas Gina V.¹⁵,Chen Nae-Chyun⁹^ORCID,Cheng Haoyu¹⁶¹⁷^ORCID,Chin Chen-Shan¹⁸^ORCID,Chow William¹⁹^ORCID,de Lima Leonardo G.¹³^ORCID,Dishuck Philip C.⁴^ORCID,Durbin Richard¹⁹²⁰^ORCID,Dvorkina Tatiana³,Fiddes Ian T.²¹^ORCID,Formenti Giulio²²²³^ORCID,Fulton Robert S.²⁴,Fungtammasan Arkarachai¹⁸^ORCID,Garrison Erik¹¹²⁵^ORCID,Grady Patrick G. S.¹⁰^ORCID,Graves-Lindsay Tina A.²⁶^ORCID,Hall Ira M.²⁷^ORCID,Hansen Nancy F.²⁸^ORCID,Hartley Gabrielle A.¹⁰,Haukness Marina¹¹^ORCID,Howe Kerstin¹⁹^ORCID,Hunkapiller Michael W.²⁹,Jain Chirag¹³⁰,Jain Miten¹¹^ORCID,Jarvis Erich D.²²²³^ORCID,Kerpedjiev Peter³¹,Kirsche Melanie⁹^ORCID,Kolmogorov Mikhail³²^ORCID,Korlach Jonas²⁹^ORCID,Kremitzki Milinn²⁶^ORCID,Li Heng¹⁶¹⁷^ORCID,Maduro Valerie V.³³^ORCID,Marschall Tobias³⁴^ORCID,McCartney Ann M.¹,McDaniel Jennifer³⁵^ORCID,Miller Danny E.⁴³⁶^ORCID,Mullikin James C.¹⁴²⁸^ORCID,Myers Eugene W.³⁷^ORCID,Olson Nathan D.³⁵^ORCID,Paten Benedict¹¹^ORCID,Peluso Paul²⁹,Pevzner Pavel A.³²^ORCID,Porubsky David⁴^ORCID,Potapova Tamara¹³^ORCID,Rogaev Evgeny I.⁶⁷³⁸³⁹,Rosenfeld Jeffrey A.⁴⁰^ORCID,Salzberg Steven L.⁹⁴¹^ORCID,Schneider Valerie A.⁴²,Sedlazeck Fritz J.⁴³^ORCID,Shafin Kishwar¹¹^ORCID,Shew Colin J.⁴⁴,Shumate Alaina⁴¹^ORCID,Sims Ying¹⁹,Smit Arian F. A.⁴⁵^ORCID,Soto Daniela C.⁴⁴^ORCID,Sović Ivan²⁹⁴⁶^ORCID,Storer Jessica M.⁴⁵^ORCID,Streets Aaron⁵⁴⁷^ORCID,Sullivan Beth A.⁴⁸^ORCID,Thibaud-Nissen Françoise⁴²^ORCID,Torrance James¹⁹^ORCID,Wagner Justin³⁵,Walenz Brian P.¹^ORCID,Wenger Aaron²⁹^ORCID,Wood Jonathan M. D.¹⁹^ORCID,Xiao Chunlin⁴²^ORCID,Yan Stephanie M.⁴⁹^ORCID,Young Alice C.¹⁴^ORCID,Zarate Samantha⁹^ORCID,Surti Urvashi⁵⁰,McCoy Rajiv C.⁴⁹^ORCID,Dennis Megan Y.⁴⁴^ORCID,Alexandrov Ivan A.³⁷⁵¹^ORCID,Gerton Jennifer L.¹³⁵²^ORCID,O’Neill Rachel J.¹⁰^ORCID,Timp Winston⁸⁴¹^ORCID,Zook Justin M.³⁵^ORCID,Schatz Michael C.⁹⁴⁹^ORCID,Eichler Evan E.⁴⁵³^ORCID,Miga Karen H.¹¹⁵⁴^ORCID,Phillippy Adam M.¹^ORCID

Affiliation:

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

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

3. 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.

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.

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.

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.

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

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference127 articles.

1. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

2. Initial sequencing and analysis of the human genome

3. The Sequence of the Human Genome

4. A Whole-Genome Assembly of Drosophila

5. An assessment of the sequence gaps: Unfinished business in a finished human genome

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