ArticleNature communications2019
Evolutionary and functional impact of common polymorphic inversions in the human genome.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 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
- Limited Selection on Neanderthal DNA in 30,780 Recently Admixed Genomes with African-like Ancestry.Molecular biology and evolution · 2026Article
- A century of theories of balancing selection.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Cosmopolitan inversions have a major impact on trait variation and the power of different GWAS approaches to identify associations.PLoS genetics · 2026Article
- Large Inversion Polymorphisms are Widespread in North American Songbirds.Genome biology and evolution · 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
- A Balanced Inversion Polymorphism Exhibits a Dominance Reversal at the Gene Expression Level that Depends on Developmental Context.Molecular biology and evolution · 2025Article
- Testing for the Genomic Footprint of Conflict Between Life Stages in an Angiosperm and Moss Species.Genome biology and evolution · 2025Article
- An Assay for Variable Fragment Length Allele-Specific Genotyping.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Conserved islands of divergence associated with adaptive variation in sockeye salmon are maintained by multiple mechanisms.Molecular ecology · 2024Article
- Inversions encounter relaxed genetic constraints and balance birth and death of TPS genes in Curcuma.Nature communications · 2024Article
- Machine Learning Reveals the Diversity of Human 3D Chromatin Contact Patterns.Molecular biology and evolution · 2024Article
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Inferring Balancing Selection From Genome-Scale Data.Genome biology and evolution · 2023Review
Corrections and comments
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Authors and funding
20 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization and amplification, and we perform a complete study of 45 common human inversions of 0.1-415 kb. Most inversions promoted by homologous recombination occur recurrently in humans and great apes and they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects, such as gene disruption and gene-expression changes, or association with phenotypic traits. Therefore, our results indicate that the genome is more dynamic than previously thought and that human inversions have important functional and evolutionary consequences, making possible to determine for the first time their contribution to complex traits.
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