ArticleGenome medicine2010
Inversion variants in the human genome: role in disease and genome architecture.
Article in Genome medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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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
40 citing papers in PubMed.
- Efficient and precise inversion of genomic DNA from large to chromosomal scale.Nature chemical biology · 2026Article
- Cosmopolitan inversions have a major impact on trait variation and the power of different GWAS approaches to identify associations.PLoS genetics · 2026Article
- Non-viral in vivo electroporation-based chromosomal engineering and repair assessment in the murine uterine epithelium.PloS one · 2026Article
- Cosmopolitan inversions have a major impact on trait variation and the power of different GWAS approaches to identify associations.bioRxiv : the preprint server for biology · 2025Article
- SVEA: an accurate model for structural variation detection using multi-channel image encoding and enhanced AlexNet architecture.Journal of translational medicine · 2025Article
- The origin and maintenance of supergenes contributing to ecological adaptation in Atlantic herring.Nature communications · 2024Article
- A new era of mutation rate analyses: Concepts and methods.Zoological research · 2024Review
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study.Genes · 2022Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Correction of a Factor VIII genomic inversion with designer-recombinases.Nature communications · 2022Article
- Characteristics and possible mechanisms of formation of microinversions distinguishing human and chimpanzee genomes.Scientific reports · 2022Article
- Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting theInternational journal of molecular sciences · 2021Article
- InvertypeR: Bayesian inversion genotyping with Strand-seq data.BMC genomics · 2021Article
- Chromoanagenesis Event Underlies aFrontiers in genetics · 2021Article
- Levodopa-responsive dystonia caused by biallelicBrain communications · 2021Article
- Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.Acta neuropathologica · 2019Article
- A comparison of the association between large haplotype blocks under selection and the presence/absence of inversions.Ecology and evolution · 2019Article
- Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect.Journal of assisted reproduction and genetics · 2019Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Significant advances have been made over the past 5 years in mapping and characterizing structural variation in the human genome. Despite this progress, our understanding of inversion variants is still very restricted. While unbalanced variants such as copy number variations can be mapped using array-based approaches, strategies for characterization of inversion variants have been limited and underdeveloped. Traditional cytogenetic approaches have long been able to identify microscopic inversion events, but discovery of submicroscopic events has remained elusive and largely ignored. With the advent of paired-end sequencing approaches, it is now possible to map inversions across the human genome. Based on the paired-end sequencing studies published to date, it is now feasible to make a first map of inversions across the human genome and to use this map to explore the characteristics and distribution of this form of variation. The current map of inversions indicates that many remain to be identified, especially in the smaller size ranges. This review provides an overview of the current knowledge about human inversions and their contribution to human phenotypes. Further characterization of inversions should be considered as an important step towards a deeper understanding of human variation and genome dynamics.
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Registered trials
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.