ArticleNucleic acids research2015
Following the footprints of polymorphic inversions on SNP data: from detection to association tests.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Genetic architecture distinguishes tinnitus from hearing loss.Nature communications · 2024Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Unravelling the genetic architecture of cardiovascular disease through structural variant detection with whole-genome sequencing.Frontiers in genetics · 2026Review
- Cosmopolitan inversions have a major impact on trait variation and the power of different GWAS approaches to identify associations.PLoS genetics · 2026Article
- A Multi-Approach for In Silico Detection of Chromosome Inversions in Mosquito Vectors.Microorganisms · 2025Article
- 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
- The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies.Molecular biology and evolution · 2025Article
- Genomic Landscape of High-Altitude Adaptation in East African Mountain Honey Bees (Ecology and evolution · 2025Article
- Inversions maintain differences between migratory phenotypes of a songbird.Nature communications · 2023Article
- Genome sequencing reveals evidence of adaptive variation in the genus Zea.Nature genetics · 2022Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- Article
- Genetic variability in COVID-19-related genes in the Brazilian population.Human genome variation · 2021Article
- Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.Frontiers in genetics · 2021Article
- Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits.Genome research · 2020Article
- Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases.American journal of human genetics · 2020Article
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- Article
- Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis.Human genomics · 2019Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inversion polymorphisms have important phenotypic and evolutionary consequences in humans. Two different methodologies have been used to infer inversions from SNP dense data, enabling the use of large cohorts for their study. One approach relies on the differences in linkage disequilibrium across breakpoints; the other one captures the internal haplotype groups that tag the inversion status of chromosomes. In this article, we assessed the convergence of the two methods in the detection of 20 human inversions that have been reported in the literature. The methods converged in four inversions including inv-8p23, for which we studied its association with low-BMI in American children. Using a novel haplotype tagging method with control on inversion ancestry, we computed the frequency of inv-8p23 in two American cohorts and observed inversion haplotype admixture. Accounting for haplotype ancestry, we found that the European inverted allele in children carries a recessive risk of underweight, validated in an independent Spanish cohort (combined: OR= 2.00, P = 0.001). While the footprints of inversions on SNP data are complex, we show that systematic analyses, such as convergence of different methods and controlling for ancestry, can reveal the contribution of inversions to the ancestral composition of populations and to the heritability of human disease.
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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.