ArticleNature2023
A draft human pangenome reference.
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Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 818 papers.
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818citing papers in PubMed
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Who cites it
818 citing papers in PubMed.
- Personalized whole-body modeling links gut microbiota to metabolic perturbations in Alzheimer's disease.Gut microbes · 2026Article
- 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
- Structural variant detection across sequencing technologies.Nature biotechnology · 2026Article
- Taming the reference genome jungle: the refget sequence collection standard.Bioinformatics (Oxford, England) · 2026Article
- SVPG: a pangenome-based structural variant detection approach and rapid augmentation of pangenome graphs with new samples.Nature methods · 2026Article
- Sphingolipid and ceramide associations with tau pathology vary across diverse ethnoracial groups in postmortem brain tissue.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- An Icelandic pangenome reference.Nature · 2026Article
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Nuclear mitochondrial sequences in great ape telomere-to-telomere genomes.Genome research · 2026Article
- Unmasking human T cell receptor germline diversity: 335 novel alleles identified in 47 Pangenome reference individuals using the gAIRR Suite.Journal of advanced research · 2026Article
- The gene-regulatory evolution of the human skeleton.Nature · 2026Article
- Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.bioRxiv : the preprint server for biology · 2026Article
- Privacy-preserving pangenome graphs.Nature communications · 2026Article
- Pan-genomics and multi-omics for deciphering genetic variation and accelerating genetic improvement in ruminant livestock.Functional & integrative genomics · 2026Review
- Nanopore Ultra-Long Sequencing for FSHD: From Molecular Diagnosis to Preimplantation Genetic Testing.Genes · 2026Review
- Himito: a graph-based toolkit for mitochondrial genome analysis using long reads.Nature communications · 2026Article
- Base editing for precision therapeutics.Cell genomics · 2026Review
- Defining and cataloging variants in pangenome graphs.Cell genomics · 2026Article
- Z-DNA-associated genomic instability in the human pangenome.Research square · 2026Article
758 more citing papers are in PubMed but not listed here.
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Authors and funding
119 authors.
Wen-Wei Liao *Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID 0000-0001-8183-213X
Mobin Asri *Genomics Institute, University of California, Santa Cruz, CA, USA.
Jana Ebler *Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Daniel DoerrInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0002-3720-6227
Marina HauknessGenomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0001-9991-8089
Glenn HickeyGenomics Institute, University of California, Santa Cruz, CA, USA.
Shuangjia LuDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID 0000-0001-8571-6902
Julian K LucasGenomics Institute, University of California, Santa Cruz, CA, USA.
Jean MonlongGenomics Institute, University of California, Santa Cruz, CA, USA.
Haley J AbelDivision of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Silvia BuonaiutoInstitute of Genetics and Biophysics, National Research Council, Naples, Italy.
Xian H ChangGenomics Institute, University of California, Santa Cruz, CA, USA.
Haoyu ChengDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Justin ChuDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Vincenza ColonnaInstitute of Genetics and Biophysics, National Research Council, Naples, Italy.ORCID 0000-0002-3966-0474
Jordan M EizengaGenomics Institute, University of California, Santa Cruz, CA, USA.
Xiaowen FengDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Christian FischerDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Robert S FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Shilpa GargNovo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark.
Cristian GrozaQuantitative Life Sciences, McGill University, Montréal, Québec, Canada.
Andrea GuarracinoDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0001-9744-131X
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Simon HeumosQuantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany.
Kerstin HoweTree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.ORCID 0000-0003-2237-513X
Miten JainNortheastern University, Boston, MA, USA.ORCID 0000-0002-4571-3982
Tsung-Yu LuDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.ORCID 0000-0001-7110-3937
Charles MarkelloGenomics Institute, University of California, Santa Cruz, CA, USA.
Fergal J MartinEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-1672-050X
Matthew W MitchellCoriell Institute for Medical Research, Camden, NJ, USA.ORCID 0000-0002-6947-0495
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Moses Njagi MwanikiDepartment of Computer Science, University of Pisa, Pisa, Italy.
Adam M NovakGenomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0001-5828-047X
Hugh E OlsenGenomics Institute, University of California, Santa Cruz, CA, USA.
Trevor PesoutGenomics Institute, University of California, Santa Cruz, CA, USA.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Pjotr PrinsDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0002-8021-9162
Jonas A SibbesenCenter for Health Data Science, University of Copenhagen, Copenhagen, Denmark.
Jouni SirénGenomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0001-5828-4139
Chad TomlinsonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0001-9905-6159
Flavia VillaniDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0003-3633-0610
Mitchell R VollgerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8651-1615
Lucinda L Antonacci-FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Gunjan BaidGoogle, Mountain View, CA, USA.
Carl A BakerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Anastasiya BelyaevaGoogle, Mountain View, CA, USA.
Konstantinos BillisEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0001-8568-4306
Andrew CarrollGoogle, Mountain View, CA, USA.
Pi-Chuan ChangGoogle, Mountain View, CA, USA.
Sarah CodyMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Daniel E CookGoogle, Mountain View, CA, USA.
Robert M Cook-DeeganBarrett and O'Connor Washington Center, Arizona State University, Washington, DC, USA.
Omar E CornejoDepartment of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.ORCID 0000-0003-4076-4227
Mark DiekhansGenomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0002-0430-0989
Peter EbertInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0001-7441-532X
Susan FairleyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Olivier FedrigoVertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-6450-7551
Adam L FelsenfeldNational Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.
Giulio FormentiVertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-7554-5991
Adam FrankishEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Yan GaoCenter for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nanibaa' A GarrisonInstitute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, CA, USA.ORCID 0000-0002-6228-3216
Carlos Garcia GironEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Richard E GreenDepartment of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.ORCID 0000-0003-0516-5827
Leanne HaggertyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Thibaut HourlierEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0003-4894-7773
Hanlee P JiDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0003-3772-3424
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Barbara A KoenigProgram in Bioethics and Institute for Human Genetics, University of California, San Francisco, CA, USA.
Alexey KolesnikovGoogle, Mountain View, CA, USA.
Jan O KorbelEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-2798-3794
Jennifer KordoskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
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
HoJoon LeeDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-0973-9544
Alexandra P LewisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Hugo MagalhãesInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0002-6807-1548
Santiago Marco-SolaComputer Sciences Department, Barcelona Supercomputing Center, Barcelona, Spain.ORCID 0000-0001-7951-3914
Pierre MarijonInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Ann McCartneyGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Jennifer McDanielMaterial Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID 0000-0003-1987-0914
Jacquelyn MountcastleVertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-1078-4905
Maria NattestadGoogle, Mountain View, CA, USA.
Sergey NurkGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Nathan D OlsonMaterial Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID 0000-0003-2585-3037
Alice B PopejoyDepartment of Public Health Sciences, University of California, Davis, CA, USA.
Daniela PuiuDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Mikko RautiainenGenome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Allison A RegierMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
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
Samuel SaccoDepartment of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.
Ashley D SandersBerlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
Valerie A SchneiderNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Baergen I SchultzNational Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.
Kishwar ShafinGoogle, Mountain View, CA, USA.ORCID 0000-0001-5252-3434
Michael W SmithNational Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.
Heidi J SofiaNational Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.
Ahmad N Abou TayounAl Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.
Françoise Thibaud-NissenNational Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4957-7807
Francesca Floriana TricomiEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-6170-5499
Justin WagnerMaterial Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.
Brian 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
Jonathan M D WoodTree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.ORCID 0000-0002-7545-2162
Aleksey V ZiminDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Guillaume BourqueDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-3933-9656
Mark J P ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.ORCID 0000-0001-5395-1457
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-3897-7955
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
Justin M ZookMaterial Measurement Laboratory, 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
David HausslerGenomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0003-1533-4575
Ting WangMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-6800-242X
Erich D JarvisVertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-8931-5049
Karen H MigaGenomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0002-3670-4507
Erik GarrisonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu.ORCID 0000-0003-3821-631X
Tobias MarschallInstitute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.ORCID 0000-0002-9376-1030
Ira M HallDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.ORCID 0000-0003-4442-6655
Heng LiDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu.ORCID 0000-0003-4874-2874
Benedict PatenGenomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu.ORCID 0000-0001-8863-3539
Funding
National Biomedical Information ServicesZIHLM200888 · NLM · NATIONAL LIBRARY OF MEDICINE · PI PALTOO, DINA · 2009 to 2025
$5200.7MThe AnVIL Data Ecosystem DACReS SupplementU24HG010262 · NHGRI · BROAD INSTITUTE, INC. · PI Robert J Carroll, Jonathan Lawson · 2018 to 2026
$40.5MThe WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9MGENCODE 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
$18.4MIdentifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, Jan Oliver Korbel · 2019 to 2026
$17.2MGENCODE: 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
$13.3MComputational Methods for Genome Assembly, Transcript Assembly, and Variant DiscoveryR01HG006677 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI SALZBERG, STEVEN L. · 2011 to 2025
$10.7MImproving detection and interpretation of clinically relevant structural variationU24HG009081 · NHGRI · WASHINGTON UNIVERSITY · PI EICHLER, EVAN, FULTON, ROBERT SCOTT · 2016 to 2018
$6.8MDockstore: The Community Platform for Reproducible Biomedical Workflows and ApplicationsU24HG011853 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Jonathan Lawson, Benedict Paten · 2021 to 2026
$5.7MIntramural NIH HHS ZIA HG200398NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG006677NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG010485NHGRI NIH HHS R01 HG011274NHGRI NIH HHS R01 HG011649NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U01 HG010963NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U01 HG010973NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U24 HG007497NHGRI NIH HHS U24 HG009081NHGRI NIH HHS U24 HG010262NHGRI NIH HHS U24 HG011853NHGRI NIH HHS U41 HG007234NHGRI NIH HHS U41 HG010972NIGMS NIH HHS R01 GM123489NIGMS NIH HHS R35 GM130151NIH HHS OT2 OD033761Wellcome Trust
Abstract
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals
Indexed as
Genome, HumanGenomicsAllelesCohort StudiesDiploidyGenetic VariationHaplotypesHumansReference StandardsSequence Analysis, DNA
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