ArticleScience (New York, N.Y.)2022
Complete genomic and epigenetic maps of human centromeres.
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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 402 papers.
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402citing papers in PubMed
128.8field-weighted citation impact, top 1% of its field
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Who cites it
402 citing papers in PubMed, 595 citations in OpenAlex.
- 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
- Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.Human genetics · 2026Article
- Near-complete genomes for nine haplochromine cichlid fishes reveal a novel centromeric satellite structure organised around a pair of inverted elements.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Sequence effects on mutation rates investigated in whole-genome sequenced UK Biobank participants.G3 (Bethesda, Md.) · 2026Article
- Optimized Genome-Wide Profiling of Centromeric Chromatin Complexes by ChIP-seq.Current protocols · 2026Article
- Structure and function of the centromere and inner kinetochore.Nature reviews. Molecular cell biology · 2026Review
- Article
- Fusion-Derived Centromeres Reveal Satellite Repeat Remodeling inPlants (Basel, Switzerland) · 2026Article
- The CENP-A chaperone complex spatially organizes centromeres.Science advances · 2026Article
- Nanopore Ultra-Long Sequencing for FSHD: From Molecular Diagnosis to Preimplantation Genetic Testing.Genes · 2026Review
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- T2T and chromosome-level genome assemblies provide insights into the genetic basis of bioactive compound biosynthesis and environmental adaptation in licorice.Science China. Life sciences · 2026Article
- ONT-only genome assembly of a Korean male individual using a semen sample.Genes & genomics · 2026Article
- Article
- Assessing Hardy-Weinberg equilibrium in T2T-aligned 1000 genomes project.PLoS genetics · 2026Article
- Evolution and domestication-trait associations of ultra-long centromere haplotypes in pepper plants.Nature ecology & evolution · 2026Article
- α-Satellite RNA maintains centromeric cohesion through R-loops.Molecular cell · 2026Article
- Phased T2T horse and donkey assemblies from a mule reveal peculiar equid centromere evolution.Cell genomics · 2026Article
- Haplotype-resolved DiMeLo-seq maps centromeric chromatin in a complete diploid human genome.Cell genomics · 2026Article
- Low kinetochore-microtubule occupancy leaves a mitotic memory by delaying checkpoint silencing.Nature communications · 2026Article
342 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
59 authors at 20 institutions in 2 countries.
Nicolas AltemoseDepartment of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.ORCID 0000-0002-7231-6026
Glennis A Logsdon *Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Andrey V Bzikadze *Graduate Program in Bioinformatics and Systems Biology, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-7928-7950
Pragya Sidhwani *Department of Biochemistry, Stanford University, Stanford, CA, USA.ORCID 0000-0002-5292-6740
Sasha A Langley *Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Gina V Caldas *Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Savannah J HoytInstitute for Systems Genomics, University of Connecticut, Storrs, CT, USA.ORCID 0000-0001-7804-3236
Lev UralskySirius University of Science and Technology, Sochi, Russia.ORCID 0000-0002-5565-7961
Fedor D RyabovMoscow Polytechnic University, Moscow, Russia.ORCID 0000-0001-8728-9465
Colin J ShewGenome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, USA.
Michael E G SauriaDepartment of Biology, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-5556-9446
Matthew BorchersStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-5903-3489
Ariel GershmanDepartment of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-8899-8781
Alla MikheenkoCenter for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
Valery A ShepelevVavilov Institute of General Genetics, Moscow, Russia.
Tatiana DvorkinaCenter for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
Olga KunyavskayaCenter for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.ORCID 0000-0001-9544-6344
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8651-1615
Arang RhieGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9809-8127
Ann M McCartneyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Mobin AsriUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Ryan Lorig-RoachUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-8183-9611
Kishwar ShafinUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-5252-3434
Julian K LucasUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-9163-2756
Sergey AganezovDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-2458-8323
Daniel OlsonDepartment of Computer Science, University of Montana, Missoula, MT. USA.ORCID 0000-0002-3681-5944
Leonardo Gomes de LimaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-6340-6065
Tamara PotapovaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-2761-1795
Gabrielle A HartleyInstitute for Systems Genomics, 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
Peter KerpedjievReservoir Genomics, Oakland, CA.
Fedor GusevVavilov Institute of General Genetics, Moscow, Russia.ORCID 0000-0001-9859-4721
Kristof TigyiUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Shelise BrooksNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Alice YoungNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-0549-9261
Sergey NurkGenome 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 KorenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1472-8962
Sofie R SalamaUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-6999-7193
Benedict PatenUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-8863-3539
Evgeny I RogaevSirius University of Science and Technology, Sochi, Russia.
Aaron StreetsDepartment of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.ORCID 0000-0002-3909-8389
Gary H KarpenDepartment of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.ORCID 0000-0003-1534-0385
Abby F DernburgDepartment of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
Beth A SullivanDepartment of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.ORCID 0000-0001-5216-4603
Aaron F StraightDepartment of Biochemistry, Stanford University, Stanford, CA, USA.ORCID 0000-0001-5885-7881
Travis J WheelerDepartment of Computer Science, University of Montana, Missoula, MT. USA.ORCID 0000-0003-2004-1785
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-0743-3637
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
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
Winston TimpDepartment of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-2083-6027
Megan Y DennisGenome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, USA.ORCID 0000-0002-8502-5420
Rachel J O'NeillInstitute for Systems Genomics, University of Connecticut, Storrs, CT, USA.ORCID 0000-0002-1525-6821
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
Pavel A PevznerDepartment of Computer Science and Engineering, University of California at San Diego, San Diego, CA, USA.ORCID 0000-0002-0418-165X
Mark DiekhansUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-0430-0989
Charles H LangleyDepartment of Evolution and Ecology, University of California Davis, Davis, CA, USA.
Ivan A AlexandrovVavilov Institute of General Genetics, Moscow, Russia.ORCID 0000-0003-4342-2003
Karen H MigaUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-9709-4565
University of California, Santa Cruz · USNational Institutes of Health · USJohns Hopkins University · USStowers Institute for Medical Research · USHoward Hughes Medical Institute · USSt Petersburg University · RUUniversity of California, Berkeley · USUniversity of California, Davis · USUniversity of Connecticut · USStanford University · USUniversity of California San Diego · USUniversity of Montana · USUniversity of Washington · USVavilov Institute of General Genetics · RUChan Zuckerberg Initiative (United States) · USDuke University · USLawrence Berkeley National Laboratory · USMoscow Polytechnic University · RUNational Institute of Standards and Technology · USQB3 · US
Funding
Inter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6MThe WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 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
$20.3MSurveillance genome sequencing to detect SARS-CoV-2 virus variants in MontanaP20GM103546 · NIGMS · UNIVERSITY OF MONTANA · PI BOWLER, BRUCE E · 2012 to 2021
$19.2MELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4MGENCODE: 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
$15.9MDemocratization of Data Analysis in Life Sciences Through GalaxyU24HG006620 · NHGRI · PENNSYLVANIA STATE UNIVERSITY, THE · PI Daniel James Blankenberg, Jeremy Goecks · 2021 to 2026
$9.8MMaintenance and Development of RepeatMasker and RepeatModelerR01HG002939 · NHGRI · INSTITUTE FOR SYSTEMS BIOLOGY · PI Robert MacDonald Hubley, Arian Fredericus Anthonius Smit · 2003 to 2026
$9.1MMechanisms of Kinetochore AssemblyR01GM074728 · NIGMS · STANFORD UNIVERSITY · PI Aaron F Straight · 2005 to 2026
$6.6MNCI NIH HHS R01 CA266339NCI NIH HHS R21 CA238758NCI NIH HHS R21 CA240199NCI NIH HHS U01 CA253481NHGRI NIH HHS F31 HG011205NHGRI NIH HHS R01 HG002939NHGRI NIH HHS R01 HG009190NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG010329NHGRI NIH HHS R01 HG010485NHGRI NIH HHS R01 HG011274NHGRI NIH HHS R21 HG010548NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U24 HG006620NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U24 HG010136NHGRI NIH HHS U24 HG010263NHGRI NIH HHS U24 HG011853NHGRI NIH HHS U41 HG007234NHGRI NIH HHS U41 HG010972NIA NIH HHS R01 AG054712NIDDK NIH HHS R24 DK106766NIGMS NIH HHS F32 GM134558NIGMS NIH HHS P20 GM103546NIGMS NIH HHS R01 GM074728NIGMS NIH HHS R01 GM117420NIGMS NIH HHS R01 GM123312NIGMS NIH HHS R01 GM124041NIGMS NIH HHS R01 GM129263NIGMS NIH HHS R01 GM132600NIGMS NIH HHS R35 GM139653NIGMS NIH HHS T32 GM007445NIH HHS OT2 OD026682NIMH NIH HHS DP2 MH119424
Abstract
Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a complete, telomere-to-telomere human genome assembly (T2T-CHM13) has enabled us to comprehensively characterize pericentromeric and centromeric repeats, which constitute 6.2% of the genome (189.9 megabases). Detailed maps of these regions revealed multimegabase structural rearrangements, including in active centromeric repeat arrays. Analysis of centromere-associated sequences uncovered a strong relationship between the position of the centromere and the evolution of the surrounding DNA through layered repeat expansions. Furthermore, comparisons of chromosome X centromeres across a diverse panel of individuals illuminated high degrees of structural, epigenetic, and sequence variation in these complex and rapidly evolving regions.
Indexed as
Chromosome MappingEpigenesis, GeneticGenome, HumanCentromereEvolution, MolecularGenomicsHumansRepetitive Sequences, Nucleic Acid
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