ArticlePLoS genetics2019
scoreInvHap: Inversion genotyping for genome-wide association studies.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Accurate imputation of inversions in human genomes using different algorithms and data sources.NAR genomics and bioinformatics · 2026Article
- Variant-to-function dissection of the 17q21.31 locus resolves ANKRD1 as a convergent regulatory target.BMC medical genomics · 2026Article
- Characterization of non-coding variants associated with transcription-factor binding through ATAC-seq-defined footprint QTLs in liver.American journal of human genetics · 2025Article
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain.medRxiv : the preprint server for health sciences · 2023Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Prospective surveillance study to detect antimalarial drug resistance, gene deletions of diagnostic relevance and genetic diversity ofBMJ open · 2022Article
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- 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
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Authors and funding
6 authors.
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Abstract
Polymorphic inversions contribute to adaptation and phenotypic variation. However, large multi-centric association studies of inversions remain challenging. We present scoreInvHap, a method to genotype inversions from SNP data for genome-wide association studies (GWASs), overcoming important limitations of current methods and outperforming them in accuracy and applicability. scoreInvHap calls individual inversion-genotypes from a similarity score to the SNPs of experimentally validated references. It can be used on different sources of SNP data, including those with low SNP coverage such as exome sequencing, and is easily adaptable to genotype new inversions, either in humans or in other species. We present 20 human inversions that can be reliably and easily genotyped with scoreInvHap to discover their role in complex human traits, and illustrate a first genome-wide association study of experimentally-validated human inversions. scoreInvHap is implemented in R and it is freely available from Bioconductor.
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