ArticleNature2025
Structural variation in 1,019 diverse humans based on long-read sequencing.
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Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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64citing papers in PubMed
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Who cites it
64 citing papers in PubMed.
- T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.iScience · 2026Article
- Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.bioRxiv : the preprint server for biology · 2026Article
- Accurate imputation of inversions in human genomes using different algorithms and data sources.NAR genomics and bioinformatics · 2026Article
- Predictive models of the genetic bases underlying budding yeast fitness in multiple environments.NAR genomics and bioinformatics · 2026Article
- Advances in the etiology of congenital scoliosis: from morphology to spatiotemporal molecular mechanisms (2015-2025).EFORT open reviews · 2026Article
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Bridging precision agriculture and human medicine through comparative genetics.Nature reviews. Genetics · 2026Review
- Structural variants contribute substantially to complex trait heritability.Research square · 2026Article
- gaftools: a toolkit for analyzing and manipulating pangenome alignments.Bioinformatics (Oxford, England) · 2026Article
- Pangenome-resolved structural variation drives adaptation and trait evolution in cucumber.Nature genetics · 2026Article
- Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.Nature genetics · 2026Review
- HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.bioRxiv : the preprint server for biology · 2026Article
- [Applications and Challenges of Deep Learning in Human Genome Research].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Review
- Multiomic profiling links L1 retrotransposition to genomic instability and ecDNA in bladder cancer.Nature communications · 2026Article
- Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.bioRxiv : the preprint server for biology · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Pangenome-based structural variant imputation enables large-scale genotype-phenotype studies in dairy cattle.Nature communications · 2026Article
- needLR: long-read structural variant annotation with population-scale frequency estimation.Bioinformatics (Oxford, England) · 2026Article
- High Rate of Mutation and Efficient Removal by Selection of Structural Variants From Natural Populations of Caenorhabditis Elegans.Genome biology and evolution · 2026Article
- Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.Annals of clinical and translational neurology · 2026Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
32 authors.
Siegfried Schloissnig *Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.ORCID 0000-0003-4574-8330
Samarendra Pani *Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0009-0002-2037-2533
Jana EblerInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Carsten HainEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID 0000-0002-6206-9906
Vasiliki TsapalouEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Arda SöylevInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Patrick HütherResearch Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.ORCID 0000-0003-3315-2484
Hufsah AshrafInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Timofey ProdanovInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0001-7469-6651
Mila AsparuhovaResearch Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.ORCID 0000-0002-8597-4116
Hugo MagalhãesInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0002-6807-1548
Wolfram HöpsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Jesus Emiliano Sotelo-FonsecaCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Tomas FitzgeraldEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.ORCID 0000-0002-2370-8496
Walter Santana-GarciaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.
Ricardo Moreira-PinhalInstitut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.ORCID 0000-0002-2744-4790
Sarah HuntEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.ORCID 0000-0002-8350-1235
Francy J Pérez-LlanosBiological and Medical Research Center (BMFZ), Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Tassilo Erik WollenweberBiological and Medical Research Center (BMFZ), Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0001-7953-9903
Sugirthan SivalingamInstitute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0003-2812-6492
Mario CáceresInstitut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.ORCID 0000-0002-7736-3251
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-1693-9699
Ewan BirneyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.ORCID 0000-0001-8314-8497
Zhihao DingGlobal Computational Biology and Digital Sciences (gCBDS), Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany.
Jan Nygaard JensenGlobal Computational Biology and Digital Sciences (gCBDS), Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany.
Nikhil PodduturiGlobal Computational Biology and Digital Sciences (gCBDS), Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany.
Jan StutzkiBI X GmbH, Ingelheim am Rhein, Germany.
Bernardo Rodriguez-MartinEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. bernardo.rodriguez@crg.eu.
Tobias RauschEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. tobias.rausch@embl.de.ORCID 0000-0001-5773-5620
Tobias MarschallInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. tobias.marschall@hhu.de.ORCID 0000-0002-9376-1030
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. jan.korbel@embl.de.ORCID 0000-0002-2798-3794
Funding
Identifying 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
$17.2MNHGRI NIH HHS U24 HG007497
Abstract
Genomic structural variants (SVs) contribute substantially to genetic diversity and human diseases
Indexed as
Genetic VariationGenome, HumanGenomic Structural VariationAllelesChromosome BreakpointsGenomicsHumansLong Interspersed Nucleotide ElementsMinisatellite RepeatsRetroelementsRetroelements
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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.