ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2022
Genomic architecture and functional effects of potential human inversion supergenes.
Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 33 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
- Multi-ancestry gene expression models amplify transcriptome-wide association study discovery and validation.Nature communications · 2026Article
- Variant-to-function dissection of the 17q21.31 locus resolves ANKRD1 as a convergent regulatory target.BMC medical genomics · 2026Article
- Chr:17q21.31 locus risk haplotype H1 susceptibility to ferroptosis is mediated by endolysosomal pathway.Cell death & disease · 2025Article
- WinPCA: a package for windowed principal component analysis.Bioinformatics (Oxford, England) · 2025Article
- A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes.Cell reports. Medicine · 2025Article
- Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.Cell reports · 2025Article
- The shared genetic architecture and evolution of human language and musical rhythm.Nature human behaviour · 2025Article
- Genomic hotspots of chromosome rearrangements explain conserved synteny despite high rates of chromosome evolution in a holocentric lineage.Molecular ecology · 2024Article
- Identifying genetic variants associated with chromatin looping and genome function.Nature communications · 2024Article
- MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy.Acta neuropathologica communications · 2024Article
- Context-specific eQTLs reveal causal genes underlying shared genetic architecture of critically ill COVID-19 and idiopathic pulmonary fibrosis.medRxiv : the preprint server for health sciences · 2024Article
- Detection of an 8p23.1 Inversion Using High-Resolution Optical Genome Mapping.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Discovering genetic mechanisms underlying the co-occurrence of Parkinson's disease and non-motor traits.NPJ Parkinson's disease · 2024Article
- Impact of population structure in the estimation of recent historical effective population size by the software GONE.Genetics, selection, evolution : GSE · 2023Article
- The shared genetic architecture and evolution of human language and musical rhythm.bioRxiv : the preprint server for biology · 2023Article
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- Effects of urban living environments on mental health in adults.Nature medicine · 2023Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Supergenes are involved in adaptation in multiple organisms, but they are little known in humans. Genomic inversions are the most common mechanism of supergene generation and maintenance. Here, we review the information about two large inversions that are the best examples of potential human supergenes. In addition, we do an integrative analysis of the newest data to understand better their functional effects and underlying genetic changes. We have found that the highly divergent haplotypes of the 17q21.31 inversion of approximately 1.5 Mb have multiple phenotypic associations, with consistent effects in brain-related traits, red and white blood cells, lung function, male and female characteristics and disease risk. By combining gene expression and nucleotide variation data, we also analysed the molecular differences between haplotypes, including gene duplications, amino acid substitutions and regulatory changes, and identify
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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.