ArticleNucleic acids research2007
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.
Article in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 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
77 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association of variation in Fcgamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples.Annals of the rheumatic diseases · 2010Pooled it
- EOSAL-CNV for Easy and Rapid Detection of CNVs by Fragment Analysis : EOSAL: A Fast and Reliable New Method for CNV Detection.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing.Nature communications · 2022Article
- Balancing selection at the human salivary agglutinin gene (iScience · 2022Article
- Extensive variation in the intelectin gene family in laboratory and wild mouse strains.Scientific reports · 2021Article
- Copy number variation of CCL3L1 among three major ethnic groups in Malaysia.BMC genetics · 2020Article
- qEva-CRISPR: a method for quantitative evaluation of CRISPR/Cas-mediated genome editing in target and off-target sites.Nucleic acids research · 2018Article
- Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.Human genetics · 2018Article
- Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy.European journal of human genetics : EJHG · 2018Article
- HumanWellcome open research · 2018Article
- Copy number variation and disease resistance in plants.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2017Review
- Frequency of KLK3 gene deletions in the general population.Annals of clinical biochemistry · 2017Article
- Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.Human mutation · 2017Article
- Human β-Defensin 2 in Primary Sclerosing Cholangitis.Clinical and translational gastroenterology · 2017Article
- Chromosomal mapping of the αMHC-MerCreMer transgene in mice reveals a large genomic deletion.Transgenic research · 2016Article
- Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease.European journal of human genetics : EJHG · 2016Article
- Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.BMC research notes · 2015Article
- Complex and multi-allelic copy number variation in human disease.Briefings in functional genomics · 2015Review
- Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.Human molecular genetics · 2015Article
- Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Recent work has demonstrated an unexpected prevalence of copy number variation in the human genome, and has highlighted the part this variation may play in predisposition to common phenotypes. Some important genes vary in number over a high range (e.g. DEFB4, which commonly varies between two and seven copies), and have posed formidable technical challenges for accurate copy number typing, so that there are no simple, cheap, high-throughput approaches suitable for large-scale screening. We have developed a simple comparative PCR method based on dispersed repeat sequences, using a single pair of precisely designed primers to amplify products simultaneously from both test and reference loci, which are subsequently distinguished and quantified via internal sequence differences. We have validated the method for the measurement of copy number at DEFB4 by comparison of results from >800 DNA samples with copy number measurements by MAPH/REDVR, MLPA and array-CGH. The new Paralogue Ratio Test (PRT) method can require as little as 10 ng genomic DNA, appears to be comparable in accuracy to the other methods, and for the first time provides a rapid, simple and inexpensive method for copy number analysis, suitable for application to typing thousands of samples in large case-control association studies.
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Registered trials
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