ArticleNature2025
Complex genetic variation in nearly complete human genomes.
Erratum issuedAbstract read
In one paragraph
Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 104 papers.
0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed
–field-weighted citation impact
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
104 citing papers in PubMed.
- 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
- Article
- 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
- Uncovering structural variation in conifer gigagenomes: evolutionary insights and technical challenges.Molecular biology and evolution · 2026Article
- The gene-regulatory evolution of the human skeleton.Nature · 2026Article
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026Article
- COSIGT: population-scalable genotyping of complex loci from low-coverage sequencing data using pangenome graphs.Genome biology · 2026Article
- Accurate imputation of inversions in human genomes using different algorithms and data sources.NAR genomics and bioinformatics · 2026Article
- Bridging precision agriculture and human medicine through comparative genetics.Nature reviews. Genetics · 2026Review
- Telomere-to-telomere genome assembly and a pangenome for the rat.Cell genomics · 2026Article
- Article
- Article
- Structural variants contribute substantially to complex trait heritability.Research square · 2026Article
- Complete sequencing of medaka genomes reveals the architecture of centromeric satellites, giant mobile elements, and sex chromosomes.Genome research · 2026Article
- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.European journal of human genetics : EJHG · 2026Review
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Article
- A Personalized Haplotype-Resolved Near-Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
- Update of
Authors and funding
68 authors.
Glennis A Logsdon *Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Peter Ebert *Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0001-7441-532X
Peter A Audano *The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-5187-0415
Mark Loftus *Department of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.ORCID 0000-0002-6279-6855
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Jana EblerCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Feyza YilmazThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0001-8795-5800
Pille HallastThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-0588-3987
Timofey ProdanovCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0001-7469-6651
DongAhn YooDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0033-3721
Carolyn A PaisieThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Xuefang ZhaoProgram in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gianni V MartinoDepartment of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.
Mir HenglinCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Keon RabbaniDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
Chen-Shan ChinPathos AI Inc., Chicago, IL, USA.ORCID 0000-0003-4394-2455
Bida GuDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
Hufsah AshrafCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Stephan ScholzCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Olanrewaju Austine-OrimoloyeEuropean Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK.
Parithi BalachandranThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Marc Jan BonderDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Haoyu ChengDepartment of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-9209-5793
Zechen ChongDepartment of Biomedical Informatics and Data Science, Heersink School of Medicine, University of Alabama, Birmingham, AL, USA.ORCID 0000-0001-5750-1808
Jonathan CrabtreeInstitute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-7286-5690
Mark GersteinDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.ORCID 0000-0002-9746-3719
Lisbeth A GuethleinDepartment of Structural Biology, School of Medicine, Stanford University, Stanford, CA, USA.
Patrick HasenfeldGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.ORCID 0000-0003-2319-2482
Glenn HickeyUC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0002-2280-9404
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Sarah E HuntEuropean Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK.ORCID 0000-0002-8350-1235
Matthew JensenDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.
Yunzhe JiangDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.ORCID 0000-0001-8768-0050
Sergey KorenGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1472-8962
Youngjun KwonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-5024-2134
Chong LiDepartment of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, PA, USA.ORCID 0000-0003-1949-4074
Heng LiDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID 0000-0003-4874-2874
Jiaqi LiDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.ORCID 0000-0002-6796-335X
Paul J NormanDepartment of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA.ORCID 0000-0001-8370-7703
Keisuke K OshimaDepartment of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Benedict PatenUC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.ORCID 0000-0001-8863-3539
Adam M PhillippyGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-2983-8934
Nicholas R PollockDepartment of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA.ORCID 0000-0003-0114-528X
Tobias RauschGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.ORCID 0000-0001-5773-5620
Mikko RautiainenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Yuwei SongDepartment of Biomedical Informatics and Data Science, Heersink School of Medicine, University of Alabama, Birmingham, AL, USA.ORCID 0000-0003-2537-4343
Arda SöylevCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Arvis SulovariDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Likhitha SurapaneniEuropean Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK.ORCID 0000-0002-0575-7673
Vasiliki TsapalouGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Weichen ZhouDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-4755-1072
Ying ZhouDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA.
Qihui ZhuThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Michael C ZodyNew York Genome Center, New York, NY, USA.ORCID 0000-0001-6594-7199
Ryan E MillsDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-3425-6998
Scott E DevineInstitute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.
Xinghua ShiDepartment of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, PA, USA.
Michael E TalkowskiProgram in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J P ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.ORCID 0000-0001-5395-1457
Alexander T DiltheyCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Miriam K KonkelDepartment of Genetics and Biochemistry, Clemson University, Clemson, SC, USA. mkonkel@clemson.edu.ORCID 0000-0002-3190-1667
Jan O KorbelGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. jan.korbel@embl.org.ORCID 0000-0002-2798-3794
Charles LeeThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Charles.Lee@jax.org.ORCID 0000-0001-7317-6662
Christine R BeckThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Christine.Beck@jax.org.ORCID 0000-0001-7821-8489
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ee3@uw.edu.ORCID 0000-0002-8246-4014
Tobias MarschallCenter for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.ORCID 0000-0002-9376-1030
Funding
Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9MIdentifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, CHARLES LEE · 2019 to 2026
$17.2MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MInsights Into Immune-Related Diseases Born from Population GenomicsU01AI090905 · NIAID · UNIVERSITY OF COLORADO DENVER · PI Paul John Norman · 2010 to 2026
$10.9MStatistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, MASINO, AARON J · 2021 to 2025
$10.8MSequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5MAdvanced computational methods in analyzing high-throughput sequencing dataR01HG010040 · NHGRI · DANA-FARBER CANCER INST · PI Heng Li · 2018 to 2026
$3.7MRepetitive sequences drive genome variation and plasticityR35GM133600 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Christine R Beck · 2019 to 2026
$3.0MStructural variation analysis with and without a reference genomeR35GM138212 · NIGMS · UNIVERSITY OF VIRGINIA · PI Zechen Chong · 2020 to 2026
$2.6MDetection and genotyping complex human genetic variation using single-molecule sequencingR01HG011649 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Mark Chaisson · 2021 to 2026
$2.5MMobile element mutagenesis as a driver of human cancersR01CA261934 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI Scott E Devine · 2022 to 2026
$1.7MTools for comprehensive variant characterization using the pangenomeU01HG013748 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI LI, HENG, MARSCHALL, TOBIAS · 2024 to 2024
$1.7MNCI NIH HHS P30 CA034196NCI NIH HHS R01 CA261934NCI NIH HHS R21 CA259309NHGRI NIH HHS K99 HG012798NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010040NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG011649NHGRI NIH HHS U01 HG013748NHGRI NIH HHS U24 HG007497NIAID NIH HHS U01 AI090905NIGMS NIH HHS P20 GM139769NIGMS NIH HHS R00 GM147352NIGMS NIH HHS R35 GM133600NIGMS NIH HHS R35 GM138212
Abstract
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here we sequence 65 diverse human genomes and build 130 haplotype-resolved assemblies (median continuity of 130 Mb), closing 92% of all previous assembly gaps
Indexed as
Genetic VariationGenome, HumanCentromereEpigenesis, GeneticGenomicsGenotypeHaplotypesHumansKinetochoresMajor Histocompatibility ComplexTelomere
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
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 Socratic graph.