ArticleNature2020
Telomere-to-telomere assembly of a complete human X chromosome.
Open access · hybridAbstract read
In one paragraph
Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 441 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
441citing papers in PubMed, 1 pooled it
153.6field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
441 citing papers in PubMed, 1 synthesis or guideline pooled it, 823 citations in OpenAlex.
- Advancing crop improvement through GWAS and beyond in mung bean.Frontiers in plant science · 2024Pooled it
- Nanopore Sequencing for Chikungunya Virus: Principles and Application.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Small variant calling in the era of long-read sequencing.Nature reviews. Genetics · 2026Review
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- Pervasive Positive Selection on X-linked Ampliconic Genes in Primates.Genome biology and evolution · 2026Article
- Finishing a complete giraffe genome from telomere to telomere with Verkko-Fillet.Cell genomics · 2026Article
- Haplotype-resolved DiMeLo-seq maps centromeric chromatin in a complete diploid human genome.Cell genomics · 2026Article
- New annotations for three pea aphid genome assemblies allow comparative analyses of duplication and gene family evolution.G3 (Bethesda, Md.) · 2026Article
- Neocentromeres fail to maintain DNA methylation boundaries, driving CENP-A drift, instability, and chromosome missegregation.Cell reports · 2026Article
- Article
- Germline hypomethylation shapes dynamic CpG reservoirs in ape genomes.bioRxiv : the preprint server for biology · 2026Article
- A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature.Internal medicine (Tokyo, Japan) · 2026Review
- Dual-SVF: a robust knowledge-guided multimodal method for structural variant filtering in long-read sequencing.Briefings in bioinformatics · 2026Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Quantifying telomere length: from bulk assays to single-molecule resolution.Biophysics reports · 2026Article
- The Vertebrate Genomes Project Phase I: A global reference genome resource.bioRxiv : the preprint server for biology · 2026Article
- HOROSCOPE: Decoding human centromere architecture from short reads usingbioRxiv : the preprint server for biology · 2026Article
- Reproductive mode and ploidy are associated with distinct organization of clustered centromeric regions in Meloidogyne nematodes.Genome biology · 2026Article
- Pangenomics for Agricultural Breeding: Construction Strategies, Evidence Integration, and Translational Constraints.Biology · 2026Review
381 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
53 authors at 15 institutions in 2 countries.
Karen H Miga *UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA. khmiga@ucsc.edu.ORCID http://orcid.org/0000-0002-3670-4507
Sergey Koren *Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-1472-8962
Arang RhieGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-9809-8127
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-8651-1615
Ariel GershmanDepartment of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Andrey BzikadzeGraduate Program in Bioinformatics and Systems Biology, University of California San Diego, San Diego, CA, USA.
Shelise BrooksNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
Edmund HoweStowers Institute for Medical Research, Kansas City, MO, USA.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID http://orcid.org/0000-0003-2396-0656
Valerie A SchneiderNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Tamara PotapovaStowers Institute for Medical Research, Kansas City, MO, USA.
Jonathan WoodWellcome Sanger Institute, Hinxton, UK.
William ChowWellcome Sanger Institute, Hinxton, UK.
Joel ArmstrongUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0003-2077-4671
Jeanne FredricksonDepartment of Pathology, University of Washington, Seattle, WA, USA.
Evgenia PakCytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Kristof TigyiUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Milinn KremitzkiMcDonnell Genome Institute at Washington University, St Louis, MO, USA.
Christopher MarkovicMcDonnell Genome Institute at Washington University, St Louis, MO, USA.
Valerie MaduroUndiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Amalia DutraCytogenetic and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gerard G BouffardNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.ORCID http://orcid.org/0000-0001-8744-6440
Alexander M ChangGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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 http://orcid.org/0000-0002-0950-0699
Amy B WilfertDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Françoise Thibaud-NissenNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-4957-7807
Anthony D SchmittArima Genomics, San Diego, CA, USA.
Jon-Matthew BeltonArima Genomics, San Diego, CA, USA.
Siddarth SelvarajArima Genomics, San Diego, CA, USA.
Megan Y DennisDepartment of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.ORCID http://orcid.org/0000-0002-8502-5420
Daniela C SotoDepartment of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.ORCID http://orcid.org/0000-0002-6292-655X
Ruta SahasrabudheDNA Technologies Core, Genome Center, University of California Davis, Davis, CA, USA.
Gulhan KayaDepartment of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California Davis, Davis, CA, USA.
Josh QuickInstitute of Microbiology and Infection, University of Birmingham, Birmingham, UK.
Nicholas J LomanInstitute of Microbiology and Infection, University of Birmingham, Birmingham, UK.
Nadine HolmesDeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.
Matthew LooseDeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.ORCID http://orcid.org/0000-0002-5264-0929
Urvashi SurtiDepartment of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0003-4283-9018
Rosa Ana RisquesDepartment of Pathology, University of Washington, Seattle, WA, USA.
Tina A Graves LindsayMcDonnell Genome Institute at Washington University, St Louis, MO, USA.
Robert FultonMcDonnell Genome Institute at Washington University, St Louis, MO, USA.
Ira HallMcDonnell Genome Institute at Washington University, St Louis, MO, USA.ORCID http://orcid.org/0000-0003-4442-6655
Benedict PatenUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0001-8863-3539
Kerstin HoweWellcome Sanger Institute, Hinxton, UK.
Winston TimpDepartment of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-2083-6027
Alice YoungNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.
James C MullikinNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, USA.ORCID http://orcid.org/0000-0003-0825-3750
Pavel A PevznerDepartment of Computer Science and Engineering, University of California San Diego, San Diego, CA, USA.ORCID http://orcid.org/0000-0002-0418-165X
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO, USA.ORCID http://orcid.org/0000-0003-0743-3637
Beth A SullivanDepartment of Molecular Genetics and Microbiology, Division of Human Genetics, Duke University Medical Center, Durham, NC, USA.ORCID http://orcid.org/0000-0001-5216-4603
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID http://orcid.org/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. adam.phillippy@nih.gov.ORCID http://orcid.org/0000-0003-2983-8934
National Institutes of Health · USUniversity of Washington · USJames S. McDonnell Foundation · USUniversity of California, Davis · USUniversity of California, Santa Cruz · USArima Genomics (United States) · USStowers Institute for Medical Research · USWellcome Sanger Institute · GBJohns Hopkins University · USUniversity of Birmingham · GBUniversity of California San Diego · USUniversity of Nottingham · GBDuke Medical Center · USHoward Hughes Medical Institute · USUniversity of Pittsburgh · US
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
$177.6MWomen's Cancer Research ProgramP30CA014236 · NCI · DUKE UNIVERSITY · PI DONNA NIEDZWIECKI · 1985 to 2026
$174.8MBIOCHEMISTRY, CELLULAR AND MOLECULAR BIOLOGY PROGRAMT32GM007445 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI GREEN, RACHEL · 1985 to 2021
$24.1MNHGRI/DIR Cytogenetics and Microscopy CoreZICHG200348 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI WINCOVITCH, STEPHEN · 2010 to 2025
$20.3MGENCODE 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
$17.9MSingle-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9MTraining SubprojectU54HG007990 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, PATTERSON, DAVID · 2014 to 2018
$14.8MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MNanopore based profiling of epigenetic stateR01HG009190 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI TIMP, WINSTON GEORGE · 2017 to 2024
$4.8MHoward Hughes Medical InstituteMedical Research Council MR/J014370/1Medical Research Council MR/M501621/1Medical Research Council MR/S035362/1NCI NIH HHS P30 CA014236NCI NIH HHS R01 CA181308NCI NIH HHS R21 CA238758NHGRI NIH HHS 2U41HG007234NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG009190NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R21 HG010548NHGRI NIH HHS R44 HG008118NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U41 HG007234NHGRI NIH HHS U54 HG007990NHLBI NIH HHS U01 1U01HL137183NHLBI NIH HHS U01 HL137183NIGMS NIH HHS F32 GM134558NIGMS NIH HHS R01 GM124041NIGMS NIH HHS R01 GM129263NIGMS NIH HHS T32 GM007445NIH HHS 1F32GM134558-01NIH HHS HG002385NIH HHS HG010169NIH HHS U01 1U01HG010971NIH HHS U54 1U54HG007990NIMH NIH HHS DP2 MH119424NLM NIH HHS T32 LM012419Wellcome TrustWellcome Trust 212965/Z/18/Z
Abstract
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist
Indexed as
CentromereChromosomes, Human, XCpG IslandsDNA MethylationDNA, SatelliteFemaleGenome, HumanHumansHydatidiform MoleMalePregnancyReproducibility of ResultsTelomereTestisDNA, Satellite
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