ArticleAmerican journal of human genetics2015
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
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91 citing papers in PubMed.
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- Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.Molecular cytogenetics · 2026Article
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.Genetics in medicine open · 2026Article
- Copy Number Variant Duplications Associated with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing.Molecular cytogenetics · 2025Article
- Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.Genome medicine · 2025Article
- Structural variants in the 3D genome as drivers of disease.Nature reviews. Genetics · 2025Review
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- Identification and Characterization of a Rare Exon 22 Duplication inInternational journal of molecular sciences · 2025Article
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics.Journal of medical genetics · 2025Article
- Genetic andFrontiers in genetics · 2025Article
- Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.Computational and structural biotechnology journal · 2025Article
- The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Genetic and neuro-epigenetic effects of divergent artificial selection for feather pecking behaviour in chickens.BMC genomics · 2024Article
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- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
31 more citing papers are in PubMed but not listed here.
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4 authors.
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Abstract
Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead obviously to haploinsufficiency, duplications might cause disease through triplosensitivity, gene disruption, or gene fusion at breakpoints. The mutational spectrum of duplications has been studied at certain loci, and in some cases these copy-number gains are complex chromosome rearrangements involving triplications and/or inversions. However, the organization of clinically relevant duplications throughout the genome has yet to be investigated on a large scale. Here we fine-mapped 184 germline duplications (14.7 kb-25.3 Mb; median 532 kb) ascertained from individuals referred for diagnostic cytogenetics testing. We performed next-generation sequencing (NGS) and whole-genome sequencing (WGS) to sequence 130 breakpoints from 112 subjects with 119 CNVs and found that most (83%) were tandem duplications in direct orientation. The remainder were triplications embedded within duplications (8.4%), adjacent duplications (4.2%), insertional translocations (2.5%), or other complex rearrangements (1.7%). Moreover, we predicted six in-frame fusion genes at sequenced duplication breakpoints; four gene fusions were formed by tandem duplications, one by two interconnected duplications, and one by duplication inserted at another locus. These unique fusion genes could be related to clinical phenotypes and warrant further study. Although most duplications are positioned head-to-tail adjacent to the original locus, those that are inverted, triplicated, or inserted can disrupt or fuse genes in a manner that might not be predicted by conventional copy-number assays. Therefore, interpreting the genetic consequences of duplication CNVs requires breakpoint-level analysis.
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