ArticleGenome research2007
Evidence for large inversion polymorphisms in the human genome from HapMap data.
Article in Genome research, 2007. 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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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Benchmark for simple and complex genome inversions.bioRxiv : the preprint server for biology · 2025Article
- Natural selection exerted by historical coronavirus epidemic(s): comparative genetic analysis in China Kadoorie Biobank and UK Biobank.BMC genomics · 2025Article
- The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies.Molecular biology and evolution · 2025Article
- Unravelling inversions: Technological advances, challenges, and potential impact on crop breeding.Plant biotechnology journal · 2024Review
- Fast and accurate out-of-core PCA framework for large scale biobank data.Genome research · 2023Article
- Complex population structure and haplotype patterns in the Western European honey bee from sequencing a large panel of haploid drones.Molecular ecology resources · 2022Article
- A chromosome-level genome assembly of Cairina moschata and comparative genomic analyses.BMC genomics · 2021Article
- Article
- scoreInvHap: Inversion genotyping for genome-wide association studies.PLoS genetics · 2019Article
- npInv: accurate detection and genotyping of inversions using long read sub-alignment.BMC bioinformatics · 2018Article
- Effect of Co-segregating Markers on High-Density Genetic Maps and Prediction of Map Expansion Using Machine Learning Algorithms.Frontiers in plant science · 2017Article
- Characterizing polymorphic inversions in human genomes by single-cell sequencing.Genome research · 2016Article
- Fitness consequences of polymorphic inversions in the zebra finch genome.Genome biology · 2016Article
- Article
- "Islands of Divergence" in the Atlantic Cod Genome Represent Polymorphic Chromosomal Rearrangements.Genome biology and evolution · 2016Article
- Construction of Ultradense Linkage Maps with Lep-MAP2: Stickleback F2 Recombinant Crosses as an Example.Genome biology and evolution · 2015Article
- Human inversions and their functional consequences.Briefings in functional genomics · 2015Review
- Following the footprints of polymorphic inversions on SNP data: from detection to association tests.Nucleic acids research · 2015Article
- Genome-wide association tests of inversions with application to psoriasis.Human genetics · 2014Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Knowledge about structural variation in the human genome has grown tremendously in the past few years. However, inversions represent a class of structural variation that remains difficult to detect. We present a statistical method to identify large inversion polymorphisms using unusual Linkage Disequilibrium (LD) patterns from high-density SNP data. The method is designed to detect chromosomal segments that are inverted (in a majority of the chromosomes) in a population with respect to the reference human genome sequence. We demonstrate the power of this method to detect such inversion polymorphisms through simulations done using the HapMap data. Application of this method to the data from the first phase of the International HapMap project resulted in 176 candidate inversions ranging from 200 kb to several megabases in length. Our predicted inversions include an 800-kb polymorphic inversion at 7p22, a 1.1-Mb inversion at 16p12, and a novel 1.2-Mb inversion on chromosome 10 that is supported by the presence of two discordant fosmids. Analysis of the genomic sequence around inversion breakpoints showed that 11 predicted inversions are flanked by pairs of highly homologous repeats in the inverted orientation. In addition, for three candidate inversions, the inverted orientation is represented in the Celera genome assembly. Although the power of our method to detect inversions is restricted because of inherently noisy LD patterns in population data, inversions predicted by our method represent strong candidates for experimental validation and analysis.
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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.