The complete sequence of a human genome.
| Title: | The complete sequence of a human genome. |
|---|---|
| Authors: | Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA.; Mikheenko A; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.; Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Altemose N; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.; Uralsky L; Sirius University of Science and Technology, Sochi, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.; Gershman A; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.; Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Hoyt SJ; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Diekhans M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Alonge M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Antonarakis SE; University of Geneva Medical School, Geneva, Switzerland.; Borchers M; Stowers Institute for Medical Research, Kansas City, MO, USA.; Bouffard GG; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Brooks SY; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Caldas GV; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.; Chen NC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Cheng H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Chin CS; DNAnexus, Mountain View, CA, USA.; Chow W; Wellcome Sanger Institute, Cambridge, UK.; de Lima LG; Stowers Institute for Medical Research, Kansas City, MO, USA.; Dishuck PC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Durbin R; Wellcome Sanger Institute, Cambridge, UK.; Department of Genetics, University of Cambridge, Cambridge, UK.; Dvorkina T; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.; Fiddes IT; Inscripta, Boulder, CO, USA.; Formenti G; Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.; Fulton RS; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Fungtammasan A; DNAnexus, Mountain View, CA, USA.; Garrison E; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; University of Tennessee Health Science Center, Memphis, TN, USA.; Grady PGS; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Graves-Lindsay TA; McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.; Hall IM; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Hansen NF; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hartley GA; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Haukness M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Howe K; Wellcome Sanger Institute, Cambridge, UK.; Hunkapiller MW; Pacific Biosciences, Menlo Park, CA, USA.; Jain C; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Department of Computational and Data Sciences, Indian Institute of Science, Bangalore KA, India.; Jain M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Jarvis ED; Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.; Kerpedjiev P; Reservoir Genomics LLC, Oakland, CA, USA.; Kirsche M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Kolmogorov M; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.; Korlach J; Pacific Biosciences, Menlo Park, CA, USA.; Kremitzki M; McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.; Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Maduro VV; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Marschall T; Heinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany.; McCartney AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; McDaniel J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Miller DE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Myers EW; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.; Olson ND; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Peluso P; Pacific Biosciences, Menlo Park, CA, USA.; Pevzner PA; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.; Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA.; Rogaev EI; Sirius University of Science and Technology, Sochi, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.; Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.; Rosenfeld JA; Cancer Institute of New Jersey, New Brunswick, NJ, USA.; Salzberg SL; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Shafin K; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Shew CJ; Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.; Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Sims Y; Wellcome Sanger Institute, Cambridge, UK.; Smit AFA; Institute for Systems Biology, Seattle, WA, USA.; Soto DC; Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.; Sović I; Pacific Biosciences, Menlo Park, CA, USA.; Digital BioLogic d.o.o., Ivanić-Grad, Croatia.; Storer JM; Institute for Systems Biology, Seattle, WA, USA.; Streets A; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA.; Sullivan BA; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.; Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Torrance J; Wellcome Sanger Institute, Cambridge, UK.; Wagner J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Walenz BP; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Wenger A; Pacific Biosciences, Menlo Park, CA, USA.; Wood JMD; Wellcome Sanger Institute, Cambridge, UK.; Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Yan SM; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Young AC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Surti U; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.; McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Dennis MY; Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.; Alexandrov IA; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.; Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.; Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; Department of Biochemistry and Molecular Biology, University of Kansas Medical School, Kansas City, MO, USA.; O'Neill RJ; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Timp W; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA.; Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. |
| Source: | Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. 44-53. Date of Electronic Publication: 2022 Mar 31. |
| Publication Type: | Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| Language: | English |
| Journal Info: | Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE |
| Imprint Name(s): | Publication: : Washington, DC : American Association for the Advancement of Science; Original Publication: New York, N.Y. : [s.n.] 1880- |
| MeSH Terms: | Genome, Human* ; Human Genome Project*; Sequence Analysis, DNA/*standards; Chromosomes, Artificial, Bacterial/genetics ; Chromosomes, Human/genetics ; Cell Line ; Humans ; Reference Values |
| 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. |
| Comments: | Comment in: Science. 2022 Apr;376(6588):34-35. doi: 10.1126/science.abo5367.. (PMID: 35357937); Comment in: Nat Rev Genet. 2022 Jun;23(6):321. doi: 10.1038/s41576-022-00494-5.. (PMID: 35488041); Comment in: Nature. 2022 Jun;606(7914):468-469. doi: 10.1038/d41586-022-01368-w.. (PMID: 35606432); Comment in: Mov Disord. 2022 Nov;37(11):2192. doi: 10.1002/mds.29235.. (PMID: 36173892); Comment in: Eur J Hum Genet. 2023 Jul;31(7):730-732. doi: 10.1038/s41431-023-01350-8.. (PMID: 37032353) |
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| Grant Information: | U01 HG010961 United States HG NHGRI NIH HHS; R21 CA240199 United States CA NCI NIH HHS; R21 CA238758 United States CA NCI NIH HHS; U01 HG010971 United States HG NHGRI NIH HHS; R01 GM123312 United States GM NIGMS NIH HHS; UM1 HG008898 United States HG NHGRI NIH HHS; R01 HG002385 United States HG NHGRI NIH HHS; ZIA HG200398 United States ImNIH Intramural NIH HHS; R01 GM124041 United States GM NIGMS NIH HHS; U24 HG010263 United States HG NHGRI NIH HHS; R01 HG006677 United States HG NHGRI NIH HHS; R35 GM133747 United States GM NIGMS NIH HHS; Z99 HG999999 United States ImNIH Intramural NIH HHS; 207492/Z/17/Z United Kingdom WT_ Wellcome Trust; DP2 MH119424 United States MH NIMH NIH HHS; T32 GM007445 United States GM NIGMS NIH HHS; R01 HG010040 United States HG NHGRI NIH HHS; U41 HG010972 United States HG NHGRI NIH HHS; F31 HG011205 United States HG NHGRI NIH HHS; F32 GM134558 United States GM NIGMS NIH HHS; R01 HG010169 United States HG NHGRI NIH HHS; R01 GM129263 United States GM NIGMS NIH HHS; U41 HG007234 United States HG NHGRI NIH HHS; U01 CA253481 United States CA NCI NIH HHS; U24 HG007234 United States HG NHGRI NIH HHS; R01 HG011274 United States HG NHGRI NIH HHS; U24 HG006620 United States HG NHGRI NIH HHS; R01 HG002939 United States HG NHGRI NIH HHS; R01 AG054712 United States AG NIA NIH HHS; United States HHMI Howard Hughes Medical Institute; U24 HG009081 United States HG NHGRI NIH HHS; R01 HG009190 United States HG NHGRI NIH HHS; R01 HG010485 United States HG NHGRI NIH HHS; R24 DK106766 United States DK NIDDK NIH HHS |
| Entry Date(s): | Date Created: 20220331 Date Completed: 20220405 Latest Revision: 20260301 |
| Update Code: | 20260301 |
| PubMed Central ID: | PMC9186530 |
| DOI: | 10.1126/science.abj6987 |
| PMID: | 35357919 |
| Database: | MEDLINE |
Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.