ReviewEnvironmental and molecular mutagenesis2015
Structural variation mutagenesis of the human genome: Impact on disease and evolution.
Review in Environmental and molecular mutagenesis, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
84 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- SVPG: a pangenome-based structural variant detection approach and rapid augmentation of pangenome graphs with new samples.Nature methods · 2026Article
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.Molecular genetics & genomic medicine · 2026Article
- Complex landscape of somatic copy number alterations in head and neck paragangliomas.Frontiers in endocrinology · 2026Article
- Highly polymorphic copy number variation in a segmental duplication in the mouse pseudoautosomal region even within inbred laboratory strains.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2026Article
- Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.Human mutation · 2026Article
- Complex de novo structural variants are an underestimated cause of rare disorders.Nature communications · 2025Article
- DNA methylation dysregulation patterns in the 1p36 region instability.Journal of applied genetics · 2025Article
- Review
- 2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility.American journal of human genetics · 2025Article
- FindCSV: a long-read based method for detecting complex structural variations.BMC bioinformatics · 2024Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.Nucleic acids research · 2024Article
- Article
- Haplotype-resolved Genome of Sika Deer Reveals Allele-specific Gene Expression and Chromosome Evolution.Genomics, proteomics & bioinformatics · 2023Article
- SVcnn: an accurate deep learning-based method for detecting structural variation based on long-read data.BMC bioinformatics · 2023Article
- FixItFelix: improving genomic analysis by fixing reference errors.Genome biology · 2023Article
- SVhound: detection of regions that harbor yet undetected structural variation.BMC bioinformatics · 2023Article
- TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.American journal of human genetics · 2022Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute to human genome variation and disease has been appreciated only recently. Moreover, the potential complexity of structural variants (SV) was not envisioned; thus, the frequency of complex genomic rearrangements and how such events form remained a mystery. The concept of genomic disorders, diseases due to genomic rearrangements and not sequence-based changes for which genomic architecture incite genomic instability, delineated a new category of conditions distinct from chromosomal syndromes and single-gene Mendelian diseases. Nevertheless, it is the mechanistic understanding of CNV/SV formation that has promoted further understanding of human biology and disease and provided insights into human genome and gene evolution. Environ. Mol. Mutagen. 56:419-436, 2015. © 2015 Wiley Periodicals, Inc.
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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 OpenQuestion graph.