ReviewBriefings in functional genomics2015
Human inversions and their functional consequences.
Review in Briefings in functional genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
What it found
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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
69 citing papers in PubMed, 140 citations in OpenAlex.
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Accurate imputation of inversions in human genomes using different algorithms and data sources.NAR genomics and bioinformatics · 2026Article
- Isolation of N-Fixing Bacteria from Warm-Season Pasture Grasses and the Evaluation of Nitrogen Effects on the Bacterial Communities Present inMicroorganisms · 2026Article
- The Evolution of Locally Adaptive Chromosome Inversions in Mimulus guttatus.Molecular ecology · 2025Article
- Genome-wide diversity of chromosomal inversions and their disease relationships.bioRxiv : the preprint server for biology · 2025Article
- Chromosomal Abnormalities in Couples Experiencing Recurrent Implantation Failure in West of Iran: A Case-Control Study.Molecular genetics & genomic medicine · 2025Article
- Detection and functional assessment of structural variants using whole-genome re-sequencing data in Nellore cattle.Scientific reports · 2025Article
- Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets.European journal of human genetics : EJHG · 2025Article
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- The assembly and annotation of two teinturier grapevine varieties, Dakapo and Rubired.GigaByte (Hong Kong, China) · 2025Article
- Impact of Z chromosome inversions on gene expression in testis and liver tissues in the zebra finch.Molecular ecology · 2024Article
- Fitness consequences of structural variation inferred from a House Finch pangenome.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Review
- Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.Molecular genetics & genomic medicine · 2024Article
- Monitoring Genomic Structural Rearrangements Resulting from Gene Editing.Journal of personalized medicine · 2024Article
- Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.Journal of clinical laboratory analysis · 2024Article
- Human DNA Mutations and their Impact on Genetic Disorders.Recent patents on biotechnology · 2024Review
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Loss of function of ADNP by an intragenic inversion.European journal of human genetics : EJHG · 2023Article
9 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
4 authors at 1 institution in 1 country.
Funding
Abstract
Polymorphic inversions are a type of structural variants that are difficult to analyze owing to their balanced nature and the location of breakpoints within complex repeated regions. So far, only a handful of inversions have been studied in detail in humans and current knowledge about their possible functional effects is still limited. However, inversions have been related to phenotypic changes and adaptation in multiple species. In this review, we summarize the evidences of the functional impact of inversions in the human genome. First, given that inversions have been shown to inhibit recombination in heterokaryotes, chromosomes displaying different orientation are expected to evolve independently and this may lead to distinct gene-expression patterns. Second, inversions have a role as disease-causing mutations both by directly affecting gene structure or regulation in different ways, and by predisposing to other secondary arrangements in the offspring of inversion carriers. Finally, several inversions show signals of being selected during human evolution. These findings illustrate the potential of inversions to have phenotypic consequences also in humans and emphasize the importance of their inclusion in genome-wide association studies.
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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.