ArticleScience (New York, N.Y.)2022
The complete sequence of a human genome.
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Article in Science (New York, N.Y.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,945 papers.
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1,945citing papers in PubMed
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Who cites it
1,945 citing papers in PubMed.
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- Nanopore Sequencing for Chikungunya Virus: Principles and Application.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Telomere-to-telomere CHM13 reference reveals missing truth variants and improves deep learning-based variant calling in long-read sequencing data.Quantitative biology (Beijing, China) · 2026Article
- Haplotype-resolved genome of a dry-preservable cell line reveals chromosome evolution and DNA damage.Life science alliance · 2026Article
- AI-assisted Cryo-ET workflow for 3D visualization of chromatin during cellular differentiation.Biochemistry and biophysics reports · 2026Article
- Iterative genetic testing identifiesJournal of human immunity · 2026Article
- MUC17 and the intestinal glycocalyx: structure, regulation, and barrier function in health and disease.Bioscience reports · 2026Review
- T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.iScience · 2026Article
- Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.HGG advances · 2026Article
- Discovery and engineering of avian R2 retrotransposons for all-RNA-mediated targeted DNA integration in human cells.Nature biotechnology · 2026Article
- Review
- A curated genome-scale nucleotide diversity panel of non-human primates.Genome biology · 2026Article
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.European journal of human genetics : EJHG · 2026Article
- Inferring the Landscapes of Mutation and Recombination in the Common Marmoset (Callithrix jacchus) in the Presence of Twinning and Hematopoietic Chimerism.American journal of primatology · 2026Article
- Structure and function of the centromere and inner kinetochore.Nature reviews. Molecular cell biology · 2026Review
- An Icelandic pangenome reference.Nature · 2026Article
- T2T genomes ofGenome research · 2026Article
- Nuclear mitochondrial sequences in great ape telomere-to-telomere genomes.Genome research · 2026Article
- Chromosome-scale assembly of yeast genomes using enzyme-free, dense optical genome mapping.Nature communications · 2026Article
1,885 more citing papers are in PubMed but not listed here.
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Authors and funding
100 authors.
Sergey Nurk *Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-1301-5749
Sergey Koren *Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1472-8962
Arang Rhie *Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9809-8127
Mikko Rautiainen *Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-2971-267X
Andrey V BzikadzeGraduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-7928-7950
Alla MikheenkoCenter for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8651-1615
Nicolas AltemoseDepartment of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.ORCID 0000-0002-7231-6026
Lev UralskySirius University of Science and Technology, Sochi, Russia.ORCID 0000-0002-5565-7961
Ariel GershmanDepartment of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-8899-8781
Sergey AganezovDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-2458-8323
Savannah J HoytInstitute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0001-7804-3236
Mark DiekhansUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-0430-0989
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Michael AlongeDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-3692-1819
Stylianos E AntonarakisUniversity of Geneva Medical School, Geneva, Switzerland.ORCID 0000-0001-8907-5823
Matthew BorchersStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-5903-3489
Gerard G BouffardNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8744-6440
Shelise Y BrooksNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gina V CaldasDepartment of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Nae-Chyun ChenDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-4140-4568
Haoyu ChengDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID 0000-0002-9209-5793
Chen-Shan ChinDNAnexus, Mountain View, CA, USA.ORCID 0000-0003-4394-2455
William ChowWellcome Sanger Institute, Cambridge, UK.ORCID 0000-0002-9056-201X
Leonardo G de LimaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-6340-6065
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2223-9787
Richard DurbinWellcome Sanger Institute, Cambridge, UK.ORCID 0000-0002-9130-1006
Tatiana DvorkinaCenter for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
Ian T FiddesInscripta, Boulder, CO, USA.ORCID 0000-0002-1580-7443
Giulio FormentiLaboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-7554-5991
Robert S FultonDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Arkarachai FungtammasanDNAnexus, Mountain View, CA, USA.ORCID 0000-0003-2398-0358
Erik GarrisonUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0003-3821-631X
Patrick G S GradyInstitute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0003-0180-7810
Tina A Graves-LindsayMcDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0002-0409-891X
Ira M HallDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID 0000-0003-4442-6655
Nancy F HansenComparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-0950-0699
Gabrielle A HartleyInstitute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
Marina HauknessUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-9991-8089
Kerstin HoweWellcome Sanger Institute, Cambridge, UK.ORCID 0000-0003-2237-513X
Michael W HunkapillerPacific Biosciences, Menlo Park, CA, USA.
Chirag JainGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Miten JainUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-4571-3982
Erich D JarvisLaboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-8931-5049
Peter KerpedjievReservoir Genomics LLC, Oakland, CA, USA.
Melanie KirscheDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-6631-4761
Mikhail KolmogorovDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-5489-9045
Jonas KorlachPacific Biosciences, Menlo Park, CA, USA.ORCID 0000-0003-3047-4250
Milinn KremitzkiMcDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.ORCID 0000-0001-7980-3153
Heng LiDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID 0000-0003-4874-2874
Valerie V MaduroUndiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8250-9844
Tobias MarschallHeinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany.ORCID 0000-0002-9376-1030
Ann M McCartneyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Jennifer McDanielBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID 0000-0003-1987-0914
Danny E MillerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-6096-8601
James C MullikinNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-0825-3750
Eugene W MyersMax Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.ORCID 0000-0002-6580-7839
Nathan D OlsonBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID 0000-0003-2585-3037
Benedict PatenUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-8863-3539
Paul PelusoPacific Biosciences, Menlo Park, CA, USA.
Pavel A PevznerDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-0418-165X
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Tamara PotapovaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-2761-1795
Evgeny I RogaevSirius University of Science and Technology, Sochi, Russia.
Jeffrey A RosenfeldCancer Institute of New Jersey, New Brunswick, NJ, USA.ORCID 0000-0002-8750-2841
Steven L SalzbergDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-8859-7432
Valerie A SchneiderNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6040-2691
Kishwar ShafinUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-5252-3434
Colin J ShewGenome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.
Alaina ShumateDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-4450-1857
Ying SimsWellcome Sanger Institute, Cambridge, UK.
Arian F A SmitInstitute for Systems Biology, Seattle, WA, USA.ORCID 0000-0003-2088-3165
Daniela C SotoGenome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.ORCID 0000-0002-6292-655X
Ivan SovićPacific Biosciences, Menlo Park, CA, USA.ORCID 0000-0002-5900-4319
Jessica M StorerInstitute for Systems Biology, Seattle, WA, USA.ORCID 0000-0002-9619-5265
Aaron StreetsDepartment of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.ORCID 0000-0002-3909-8389
Beth A SullivanDepartment of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.ORCID 0000-0001-5216-4603
Françoise Thibaud-NissenNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4957-7807
James TorranceWellcome Sanger Institute, Cambridge, UK.ORCID 0000-0002-6117-8190
Justin WagnerBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
Brian P WalenzGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8431-1428
Aaron WengerPacific Biosciences, Menlo Park, CA, USA.ORCID 0000-0003-1183-0432
Jonathan M D WoodWellcome Sanger Institute, Cambridge, UK.ORCID 0000-0002-7545-2162
Chunlin XiaoNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8702-4889
Stephanie M YanDepartment of Biology, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-6880-465X
Alice C YoungNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-0549-9261
Samantha ZarateDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-5570-2059
Urvashi SurtiDepartment of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Rajiv C McCoyDepartment of Biology, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-0615-146X
Megan Y DennisGenome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.ORCID 0000-0002-8502-5420
Ivan A AlexandrovCenter for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.ORCID 0000-0003-4342-2003
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-0743-3637
Rachel J O'NeillInstitute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0002-1525-6821
Winston TimpDepartment of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-2083-6027
Justin M ZookBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID 0000-0003-2309-8402
Michael C SchatzDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-4118-4446
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Karen H MigaUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-9709-4565
Adam M PhillippyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-2983-8934
Funding
National Biomedical Information ServicesZIHLM200888 · NLM · NATIONAL LIBRARY OF MEDICINE · PI PALTOO, DINA · 2009 to 2025
$5200.7MInter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6MGenomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0MThe WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9MBIOCHEMISTRY, CELLULAR AND MOLECULAR BIOLOGY PROGRAMT32GM007445 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI GREEN, RACHEL · 1985 to 2021
$24.1MImplementing the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL)U24HG010263 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI Enis Afgan, VINCENT JAMES CAREY · 2018 to 2026
$23.8MGENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3MELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4MComparative Genomics Unit ResearchZIAHG200330 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MULLIKIN, JAMES C · 2009 to 2022
$17.9MGENCODE: comprehensive reference genome annotation for human and mouseU24HG007234 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Fergal James Martin · 2021 to 2026
$16.1MSingle-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MHoward Hughes Medical InstituteIntramural NIH HHS Z99 HG999999Intramural NIH HHS ZIA HG200398NCI NIH HHS R21 CA238758NCI NIH HHS R21 CA240199NCI NIH HHS U01 CA253481NHGRI NIH HHS F31 HG011205NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG002939NHGRI NIH HHS R01 HG006677NHGRI NIH HHS R01 HG009190NHGRI NIH HHS R01 HG010040NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG010485NHGRI NIH HHS R01 HG011274NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U24 HG006620NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U24 HG009081NHGRI NIH HHS U24 HG010263NHGRI NIH HHS U41 HG007234NHGRI NIH HHS U41 HG010972NHGRI NIH HHS UM1 HG008898NIA NIH HHS R01 AG054712NIDDK NIH HHS R24 DK106766NIGMS NIH HHS F32 GM134558NIGMS NIH HHS R01 GM123312NIGMS NIH HHS R01 GM124041NIGMS NIH HHS R01 GM129263NIGMS NIH HHS R35 GM133747NIGMS NIH HHS T32 GM007445NIMH NIH HHS DP2 MH119424Wellcome Trust 207492/Z/17/Z
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.
Indexed as
Genome, HumanHuman Genome ProjectCell LineChromosomes, Artificial, BacterialChromosomes, HumanHumansReference ValuesSequence Analysis, DNA
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