ArticleNature2020
Mapping and characterization of structural variation in 17,795 human genomes.
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Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 198 papers.
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198citing papers in PubMed
18.6field-weighted citation impact, top 1% of its field
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Who cites it
198 citing papers in PubMed, 348 citations in OpenAlex.
- Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment.iScience · 2026Article
- Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- SVPG: a pangenome-based structural variant detection approach and rapid augmentation of pangenome graphs with new samples.Nature methods · 2026Article
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.European journal of human genetics : EJHG · 2026Article
- De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.American journal of medical genetics. Part A · 2026Article
- Intragenic deletions from whole genome sequencing of 1054 suicide deaths.Research square · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.HGG advances · 2026Article
- Buffering of gene dosage response curves for human complex traits.Cell genomics · 2026Article
- Pangenome-based human genome analysis improves trait association and genomic prediction.bioRxiv : the preprint server for biology · 2026Article
- Pangenome-based structural variant imputation enables large-scale genotype-phenotype studies in dairy cattle.Nature communications · 2026Article
- The evolution of structural variation across 500 million years of vertebrate evolution.bioRxiv : the preprint server for biology · 2026Article
- Structural variants are enriched in deleterious visible phenotypes inGenome research · 2026Article
- The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.Journal of applied genetics · 2026Article
- The pangenome ofiScience · 2026Article
- Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease.bioRxiv : the preprint server for biology · 2026Article
- Evolution and Comparative Analysis of Sheep Reference Genomes: From Fragmented Assemblies to Telomere-to-Telomere Genomics.Biology · 2026Review
- High-throughput mapping of spontaneous mitotic crossover and genome instability events with sci-L3-Strand-seq.Nucleic acids research · 2026Article
- Efficient and precise inversion of genomic DNA from large to chromosomal scale.Nature chemical biology · 2026Article
- Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle.Nature communications · 2026Article
138 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 2 countries.
Haley J Abel *McDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.
David E Larson *McDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.ORCID http://orcid.org/0000-0001-7934-5906
Allison A RegierMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.
Colby ChiangMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.ORCID http://orcid.org/0000-0002-4113-6065
Indraniel DasMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.
Krishna L KanchiMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.
Ryan M LayerBioFrontiers Institute, University of Colorado, Boulder, CO, USA.ORCID http://orcid.org/0000-0002-5823-3232
Benjamin M NealeBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
William J SalernoHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Catherine ReevesNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-9942-8909
Steven BuyskeDepartment of Statistics, Rutgers University, Piscataway, NJ, USA.ORCID http://orcid.org/0000-0001-8539-5416
NHGRI Centers for Common Disease Genomics
Tara C MatiseDepartment of Genetics, Rutgers University, Piscataway, NJ, USA.ORCID http://orcid.org/0000-0002-7147-492X
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Michael C ZodyNew York Genome Center, New York, NY, USA.
Eric S LanderBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Susan K DutcherMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.ORCID http://orcid.org/0000-0001-5689-5753
Nathan O StitzielMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.
Ira M HallMcDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA. ihall@genome.wustl.edu.ORCID http://orcid.org/0000-0003-4442-6655
James S. McDonnell Foundation · USBaylor College of Medicine · USBroad Institute · USNew York Genome Center · USRutgers, The State University of New Jersey · USUniversity of Colorado Boulder · US
Funding
Large Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MClinical and Translational Science InstituteUL1TR001872 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI COLLARD, HAROLD R, JACOBY, VANESSA · 2016 to 2025
$112.1MCenter for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MGenomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0MSupplement Proposal: Accelerated Genome Aggregation and Joint Variant Calling EffortUM1HG008853 · NHGRI · WASHINGTON UNIVERSITY · PI HALL, IRA M, MILBRANDT, JEFFREY D · 2016 to 2020
$76.2MNew York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6MSatellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3MThe National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS)U24AG056270 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gary Wayne Beecham, TATIANA M. FOROUD · 2017 to 2026
$31.4MUsing polygenic scores to enhance both variant discovery, and understanding of functional consequences of genetic variation in IBD.P01DK046763 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI TARGAN, STEPHAN R. · 1992 to 2020
$31.1MWashington University DDRCC Supplemental Equipment RequestP30DK052574 · NIDDK · WASHINGTON UNIVERSITY · PI Nicholas O. Davidson · 2000 to 2026
$30.8MRegional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
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Abstract
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and resources for the study of structural variants have lagged behind those for smaller variants. Here we used a scalable pipeline
Indexed as
Genetic VariationWhole Genome SequencingAllelesCase-Control StudiesEpigenesis, GeneticFemaleGene DosageGenetics, PopulationGenome, HumanHigh-Throughput Nucleotide SequencingHumansMaleMolecular Sequence AnnotationQuantitative Trait LociRacial GroupsSoftware
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