ArticleNature2023
The complete sequence of a human Y chromosome.
Open access · greenAbstract read
In one paragraph
Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 318 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
318citing papers in PubMed, 2 pooled it
175.5field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
318 citing papers in PubMed, 2 syntheses or guidelines pooled it, 431 citations in OpenAlex.
- FertilitY Predictor-a machine learning-based web tool for the prediction of assisted reproduction outcomes in men with Y chromosome microdeletions.Journal of assisted reproduction and genetics · 2025Pooled it
- A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.Frontiers in endocrinology · 2025Pooled it
- Nanopore Sequencing for Chikungunya Virus: Principles and Application.Methods in molecular biology (Clifton, N.J.) · 2027Article
- The reference shapes the signal: chrX genotype summaries and classifier sex disparity between GRCh38 and T2T-CHM13 callsets.Genomics & informatics · 2026Article
- T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.iScience · 2026Article
- Klebsiella-dominant gut communities are associated with impeded oral rotavirus vaccine response in infants.Nature communications · 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
- A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.Journal of human genetics · 2026Article
- Nuclear mitochondrial sequences in great ape telomere-to-telomere genomes.Genome research · 2026Article
- An Icelandic pangenome reference.Nature · 2026Article
- Structure and function of the centromere and inner kinetochore.Nature reviews. Molecular cell biology · 2026Review
- Recurrent deletions and regulatory disruption of the Y chromosome in cancer.Communications biology · 2026Article
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- The complete sequence of the silkworm W chromosome uncovers its rapid evolution by large-scale duplications/deletions and translocation of W-linked genes.G3 (Bethesda, Md.) · 2026Article
- Article
- Pervasive Positive Selection on X-linked Ampliconic Genes in Primates.Genome biology and evolution · 2026Article
- Loss of cellular RNA homeostasis contributes to MDA5 activation during virus infection.Nature immunology · 2026Article
- Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data.Briefings in bioinformatics · 2026Article
- Assessing Hardy-Weinberg equilibrium in T2T-aligned 1000 genomes project.PLoS genetics · 2026Article
- Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878.PLoS computational biology · 2026Article
258 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
87 authors at 20 institutions in 7 countries.
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
Sergey Nurk *Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Monika Cechova *Faculty of Informatics, Masaryk University, Brno, Czech Republic.
Savannah J Hoyt *Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0001-7804-3236
Dylan J Taylor *Department of Biology, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-5806-4494
Nicolas AltemoseDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.ORCID 0000-0002-7231-6026
Paul W HookDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-3912-1999
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
Mikko RautiainenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Ivan A AlexandrovFederal Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
Jamie AllenEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-8677-2225
Mobin AsriUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
Andrey V BzikadzeGraduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA.ORCID 0000-0002-7928-7950
Nae-Chyun ChenDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Chen-Shan ChinGeneDX Holdings Corp, Stamford, CT, USA.ORCID 0000-0003-4394-2455
Mark DiekhansUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-0430-0989
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Giulio FormentiThe Rockefeller University, New York, NY, USA.
Arkarachai FungtammasanDNAnexus, Inc., Mountain View, CA, USA.ORCID 0000-0003-2398-0358
Carlos Garcia GironEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Erik GarrisonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0003-3821-631X
Ariel GershmanDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-0743-3637
Patrick G S GradyDepartment of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
Andrea GuarracinoDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0001-9744-131X
Leanne HaggertyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Reza HalabianInstitute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
Nancy F HansenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-0950-0699
Robert HarrisDepartment of Biology, Pennsylvania State University, University Park, PA, USA.
Gabrielle A HartleyDepartment of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Marina HauknessUC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0001-9991-8089
Jakob HeinzDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Thibaut HourlierEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0003-4894-7773
Robert M HubleyInstitute for Systems Biology, Seattle, WA, USA.
Sarah E HuntEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-8350-1235
Stephen HwangXDBio Program, Johns Hopkins University, Baltimore, MD, USA.
Miten JainDepartment of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA.ORCID 0000-0002-4571-3982
Rupesh K KesharwaniHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Alexandra P LewisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Heng LiDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Julian K LucasDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
Wojciech MakalowskiInstitute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.ORCID 0000-0003-2303-9541
Christopher MarkovicGenome Technology Access Center at the McDonnell Genome Institute, Washington University, St. Louis, MO, USA.
Fergal J MartinEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-1672-050X
Ann M Mc CartneyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Rajiv C McCoyDepartment of Biology, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-0615-146X
Jennifer McDanielBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
Brandy M McNultyDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
Paul MedvedevDepartment of Computer Science and Engineering, Pennsylvania State University, University Park, PA, USA.
Alla MikheenkoCenter for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Terence D MurphyNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-9311-9745
Hugh E OlsenDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
Nathan D OlsonBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
Luis F PaulinHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.ORCID 0000-0003-2567-3773
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
Fedor RyabovMasters Program in National Research University Higher School of Economics, Moscow, Russia.ORCID 0000-0001-8728-9465
Steven L SalzbergDepartments of Biomedical Engineering, Computer Science, and Biostatistics, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-8859-7432
Michael E G SauriaDepartment of Biology, Johns Hopkins University, Baltimore, MD, USA.
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.ORCID 0000-0001-6040-2691
Kishwar ShafinGoogle Inc., Mountain View, CA, USA.ORCID 0000-0001-5252-3434
Valery A ShepelevInstitute of Molecular Genetics, Moscow, Russia.
Alaina ShumateDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Jessica M StorerInstitute for Systems Biology, Seattle, WA, USA.
Likhitha SurapaneniEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Angela M Taravella OillCenter for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.
Françoise Thibaud-NissenNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4957-7807
Winston TimpDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-2083-6027
Marta TomaszkiewiczDepartment of Biology, Pennsylvania State University, University Park, PA, USA.ORCID 0000-0003-1523-200X
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8651-1615
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
Allison C WatwoodDepartment of Biology, Pennsylvania State University, University Park, PA, USA.
Matthias H WeissensteinerDepartment of Biology, Pennsylvania State University, University Park, PA, USA.
Aaron M WengerPacific Biosciences, Menlo Park, CA, USA.
Melissa A WilsonCenter for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.
Samantha ZarateDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-5570-2059
Yiming ZhuHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Justin M ZookBiosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID 0000-0003-2309-8402
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Rachel J O'NeillDepartment of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.ORCID 0000-0002-1525-6821
Michael C SchatzDepartment of Biology, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0002-4118-4446
Karen H MigaDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-3670-4507
Kateryna D MakovaDepartment of Biology, Pennsylvania State University, University Park, PA, USA.
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 0000-0003-2983-8934
Johns Hopkins University · USNational Institutes of Health · USEuropean Bioinformatics Institute · GBUniversity of California, Santa Cruz · USPennsylvania State University · USUniversity of Washington · USBaylor College of Medicine · USUniversity of Connecticut · USNational Institute of Standards and Technology · USArizona State University · USInstitute for Systems Biology · USStowers Institute for Medical Research · USUniversity of Münster · DEUniversity of Tennessee Health Science Center · USDNAnexus (United States) · USGoogle (United States) · USHarvard University · USHoward Hughes Medical Institute · USInstitute of Molecular Genetics · RUJames S. McDonnell Foundation · US
Funding
The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9MImplementing 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
$18.4MGENCODE: 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 GalaxyU41HG006620 · NHGRI · PENNSYLVANIA STATE UNIVERSITY, THE · PI NEKRUTENKO, ANTON, SCHATZ, MICHAEL · 2012 to 2020
$14.4MFrequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MDemocratization 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
$9.1MCenter for Human Genome Reference DiversityUM1HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Robert Mullan Cook-Deegan, Evan Eichler · 2024 to 2026
$8.6MHoward Hughes Medical InstituteIntramural NIH HHS Z99 HG999999Intramural NIH HHS ZIA HG200398NCI NIH HHS R01 CA266339NCI NIH HHS R21 CA240199NCI NIH HHS U01 CA253481NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG002939NHGRI NIH HHS R01 HG009190NHGRI NIH HHS R01 HG010040NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG011274NHGRI NIH HHS R21 HG010548NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U24 HG006620NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U24 HG010136NHGRI NIH HHS U24 HG010263NHGRI NIH HHS U41 HG006620NHGRI NIH HHS U41 HG007234NHGRI NIH HHS U41 HG010972NHGRI NIH HHS UM1 HG010971NIDA NIH HHS U01 DA047638NIGMS NIH HHS K99 GM147352NIGMS NIH HHS R00 GM147352NIGMS NIH HHS R01 GM072264NIGMS NIH HHS R01 GM123312NIGMS NIH HHS R01 GM130691NIGMS NIH HHS R01 GM136684NIGMS NIH HHS R35 GM124827NIGMS NIH HHS R35 GM133747NIGMS NIH HHS T32 GM007454NIH HHS S10 OD028587
Abstract
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications
Indexed as
Chromosomes, Human, YGenomicsSequence Analysis, DNABase SequenceCell Cycle ProteinsDeleted in Azoospermia 1 ProteinDNA, SatelliteGenetics, PopulationGenetic VariationHeterochromatinHumansMultigene FamilyNuclear ProteinsReference StandardsRNA-Binding ProteinsSegmental Duplications, GenomicCell Cycle ProteinsDAZ1 protein, humanDeleted in Azoospermia 1 ProteinDNA, SatelliteHeterochromatinNuclear ProteinsRBMY1A1 protein, humanRNA-Binding ProteinsTSPY1 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.