ArticleGenome research2020
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.
Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Detailed stratified GWAS analysis for severe COVID-19 in four European populations.Human molecular genetics · 2022Pooled it
- 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
- Article
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Inversion polymorphism in a complete human genome assembly.Genome biology · 2023Article
- Temperature-associated selection linked to putative chromosomal inversions in king scallop (Proceedings. Biological sciences · 2022Article
- A high-resolution map of small-scale inversions in the gibbon genome.Genome research · 2022Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Article
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- Correction of a Factor VIII genomic inversion with designer-recombinases.Nature communications · 2022Article
- InvertypeR: Bayesian inversion genotyping with Strand-seq data.BMC genomics · 2021Article
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.Genome research · 2020Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite the interest in characterizing genomic variation, the presence of large repeats at the breakpoints hinders the analysis of many structural variants. This is especially problematic for inversions, since there is typically no gain or loss of DNA. Here, we tested novel linkage-based droplet digital PCR (ddPCR) assays to study 20 inversions ranging from 3.1 to 742 kb flanked by inverted repeats (IRs) up to 134 kb long. Of those, we validated 13 inversions predicted by different genome-wide techniques. In addition, we obtained new experimental human population information across 95 African, European, and East Asian individuals for 16 inversions, including four already validated variants without high-throughput genotyping methods. Through comparison with previous data, independent replicates and both inversion breakpoints, we demonstrate that the technique is highly accurate and reproducible. Most studied inversions are widespread across continents, and their frequency is negatively correlated with genetic length. Moreover, all except two show clear signs of being recurrent, and we could better define the factors affecting recurrence levels and estimate the inversion rate across the genome. Finally, the generated genotypes have allowed us to check inversion functional effects, validating gene expression differences reported before for two inversions and finding new candidate associations. Therefore, the developed methodology makes it possible to screen these and other complex genomic variants quickly in a large number of samples for the first time, highlighting the importance of direct genotyping to assess their potential consequences and clinical implications.
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