ArticleCell2022
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
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Article in Cell, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers.
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111citing papers in PubMed
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Who cites it
111 citing papers in PubMed.
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Heterogeneity in cancer: molecular mechanisms and therapeutic strategies.Signal transduction and targeted therapy · 2026Review
- Accurate imputation of inversions in human genomes using different algorithms and data sources.NAR genomics and bioinformatics · 2026Article
- LINE-1 Deregulation in Ovarian Cancer: Implications for Diagnosis, Prognosis, and Therapeutic Targeting.Molecular diagnosis & therapy · 2026Review
- Article
- Invas: an inversion-aware method for transcriptome assembly.Nature communications · 2026Article
- Building and applying pangenome references to capture genetic diversity.Nature reviews. Genetics · 2026Review
- A global map for introgressed structural variation and selection in humans.Science (New York, N.Y.) · 2026Article
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.Nature communications · 2026Article
- Recombination suppression in plant adaptation and speciation.The New phytologist · 2026Review
- Strand-seq and the future of personalized genomics.Nature genetics · 2026Review
- Haplotype-resolved genome assemblies of BJ and IMR-90 human fibroblast cell lines reveal extensive structural variation and enable reanalysis of historical sequencing data.Nucleic acids research · 2026Article
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.Genome research · 2026Article
- A pangenome reference and population studies link structural variants with breeding traits in Gossypium hirsutum.Nature genetics · 2026Article
- Distinct mechanisms of CNV formation at the human 15q13.3 locus.bioRxiv : the preprint server for biology · 2026Article
- Reference-Guided Chromosome-by-Chromosome de novo Assembly at Scale Using Low-Coverage High-Fidelity Long-Reads with HiFiCCL.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Population-level structural variant characterization using pangenome graphs.Nature genetics · 2026Article
51 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Wolfram HöpsEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
Hufsah AshrafHeinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany.
PingHsun HsiehDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Bernardo Rodriguez-MartinEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
Feyza YilmazThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Jana EblerHeinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany.
Pille HallastThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Flavia Angela Maria MaggioliniDepartment of Biology, University of Bari "Aldo Moro", 70125 Bari, Italy; Consiglio per la Ricerca in Agricoltura e l'Analisi dell'Economia Agraria-Centro di Ricerca Viticoltura ed Enologia (CREA-VE), Via Casamassima 148, 70010 Turi, Italy.
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Barbara HenningDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Peter A AudanoThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
David S GordonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Peter EbertHeinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany.
Patrick HasenfeldEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
Eva BenitoEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
Qihui ZhuThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Human Genome Structural Variation Consortium (HGSVC)
Charles LeeThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Francesca AntonacciDepartment of Biology, University of Bari "Aldo Moro", 70125 Bari, Italy.
Matthias SteinrückenDepartment of Ecology and Evolution, University of Chicago, Chicago, IL, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Christine R BeckThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA; The University of Connecticut Health Center, 400 Farmington Rd., Farmington, CT 06032, USA.
Ashley D SandersBerlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany; Charité-Universitätsmedizin, Berlin, Berlin, Germany.
Tobias MarschallHeinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany. Electronic address: tobias.marschall@hhu.de.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. Electronic address: eee@gs.washington.edu.
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK. Electronic address: jan.korbel@embl.org.
Funding
Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI Paul Robson · 1985 to 2026
$61.9MNew 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
$56.6MThe WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 2019 to 2026
$24.9MELSI 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
$17.2MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MSequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5MThe construction and utility of reference pan-genome graphsU01HG010961 · NHGRI · DANA-FARBER CANCER INST · PI LI, HENG, PATEN, BENEDICT · 2020 to 2023
$3.2MRepetitive 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
$2.6MMobile element mutagenesis as a driver of human cancersR01CA261934 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI Scott E Devine · 2022 to 2026
$1.7MK-mer indexing for pan-genome reference annotationU01HG010963 · NHGRI · STANFORD UNIVERSITY · PI JI, HANLEE P, WEISSMAN, TSACHY · 2020 to 2023
$1.3MNCI NIH HHS P30 CA034196NCI NIH HHS R01 CA261934NCI NIH HHS R21 CA259309NHGRI NIH HHS K99 HG011041NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U01 HG010963NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U01 HG010973NHGRI NIH HHS U24 HG007497NHGRI NIH HHS U41 HG010972NHGRI NIH HHS UM1 HG008901NIGMS NIH HHS R35 GM133600NIGMS NIH HHS R35 GM138212
Abstract
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions <2 kbp form by twin-priming during L1 retrotransposition; 80% of the larger inversions are balanced and affect twice as many nucleotides as CNVs. Balanced inversions show an excess of common variants, and 72% are flanked by segmental duplications (SDs) or retrotransposons. Since flanking repeats promote non-allelic homologous recombination, we developed complementary approaches to identify recurrent inversion formation. We describe 40 recurrent inversions encompassing 0.6% of the genome, showing inversion rates up to 2.7 × 10
Indexed as
Chromosome InversionSegmental Duplications, GenomicDNA Copy Number VariationsGenome, HumanGenomicsHumansgenomic disordergenomic instabilitygenomic structural variationhuman genetic variationinversionL1 mobile elementpathogenic CNVrecurrent mutationretrotransposon
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