The complete sequence of a human genome

Author:

Nurk Sergey1ORCID,Koren Sergey1ORCID,Rhie Arang1ORCID,Rautiainen Mikko1ORCID,Bzikadze Andrey V.2ORCID,Mikheenko Alla3,Vollger Mitchell R.4ORCID,Altemose Nicolas5ORCID,Uralsky Lev67ORCID,Gershman Ariel8ORCID,Aganezov Sergey9ORCID,Hoyt Savannah J.10ORCID,Diekhans Mark11ORCID,Logsdon Glennis A.4ORCID,Alonge Michael9ORCID,Antonarakis Stylianos E.12ORCID,Borchers Matthew13ORCID,Bouffard Gerard G.14ORCID,Brooks Shelise Y.14,Caldas Gina V.15,Chen Nae-Chyun9ORCID,Cheng Haoyu1617ORCID,Chin Chen-Shan18ORCID,Chow William19ORCID,de Lima Leonardo G.13ORCID,Dishuck Philip C.4ORCID,Durbin Richard1920ORCID,Dvorkina Tatiana3,Fiddes Ian T.21ORCID,Formenti Giulio2223ORCID,Fulton Robert S.24,Fungtammasan Arkarachai18ORCID,Garrison Erik1125ORCID,Grady Patrick G. S.10ORCID,Graves-Lindsay Tina A.26ORCID,Hall Ira M.27ORCID,Hansen Nancy F.28ORCID,Hartley Gabrielle A.10,Haukness Marina11ORCID,Howe Kerstin19ORCID,Hunkapiller Michael W.29,Jain Chirag130,Jain Miten11ORCID,Jarvis Erich D.2223ORCID,Kerpedjiev Peter31,Kirsche Melanie9ORCID,Kolmogorov Mikhail32ORCID,Korlach Jonas29ORCID,Kremitzki Milinn26ORCID,Li Heng1617ORCID,Maduro Valerie V.33ORCID,Marschall Tobias34ORCID,McCartney Ann M.1,McDaniel Jennifer35ORCID,Miller Danny E.436ORCID,Mullikin James C.1428ORCID,Myers Eugene W.37ORCID,Olson Nathan D.35ORCID,Paten Benedict11ORCID,Peluso Paul29,Pevzner Pavel A.32ORCID,Porubsky David4ORCID,Potapova Tamara13ORCID,Rogaev Evgeny I.673839,Rosenfeld Jeffrey A.40ORCID,Salzberg Steven L.941ORCID,Schneider Valerie A.42,Sedlazeck Fritz J.43ORCID,Shafin Kishwar11ORCID,Shew Colin J.44,Shumate Alaina41ORCID,Sims Ying19,Smit Arian F. A.45ORCID,Soto Daniela C.44ORCID,Sović Ivan2946ORCID,Storer Jessica M.45ORCID,Streets Aaron547ORCID,Sullivan Beth A.48ORCID,Thibaud-Nissen Françoise42ORCID,Torrance James19ORCID,Wagner Justin35,Walenz Brian P.1ORCID,Wenger Aaron29ORCID,Wood Jonathan M. D.19ORCID,Xiao Chunlin42ORCID,Yan Stephanie M.49ORCID,Young Alice C.14ORCID,Zarate Samantha9ORCID,Surti Urvashi50,McCoy Rajiv C.49ORCID,Dennis Megan Y.44ORCID,Alexandrov Ivan A.3751ORCID,Gerton Jennifer L.1352ORCID,O’Neill Rachel J.10ORCID,Timp Winston841ORCID,Zook Justin M.35ORCID,Schatz Michael C.949ORCID,Eichler Evan E.453ORCID,Miga Karen H.1154ORCID,Phillippy Adam M.1ORCID

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

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