ArticlePLoS genetics2007
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
Article in PLoS genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed.
- Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle.Journal of advanced research · 2026Article
- Exploring cattle structural variation in the era of long reads, pangenome graphs, and near-complete assemblies.Journal of animal science and biotechnology · 2025Review
- The Promise of Genetics in Alcohol Use Disorders and the Problems of Phenotype, Polygenetic Architecture, Ancestry, and Comorbidity.The American journal of psychiatry · 2025Article
- Genomic signatures in plasma circulating tumor DNA reveal treatment response and prognostic insights in mantel cell lymphoma.Cancer cell international · 2025Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Copy number variant-based genome wide association study reveals immune-related genes associated with parasite resistance in a heritage sheep breed from the United States.Parasite immunology · 2022Article
- The Association of the Copy Number Variation of theAnimals : an open access journal from MDPI · 2020Article
- Probe-based association analysis identifies several deletions associated with average daily gain in beef cattle.BMC genomics · 2019Article
- Copy Number Variation in Fungi and Its Implications for Wine Yeast Genetic Diversity and Adaptation.Frontiers in microbiology · 2018Review
- Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients.European journal of human genetics : EJHG · 2015Article
- The molecular basis of antifolate resistance in Plasmodium falciparum: looking beyond point mutations.Annals of the New York Academy of Sciences · 2015Review
- A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.PloS one · 2015Article
- Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.Genetics research · 2014Article
- A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.Human genetics · 2014Article
- Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population.Journal of genetics · 2014Article
- Copy number variations among silkworms.BMC genomics · 2014Article
- Genetic aspects of autism spectrum disorders: insights from animal models.Frontiers in cellular neuroscience · 2014Review
- Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.PloS one · 2014Article
- Comparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP Data.Microarrays (Basel, Switzerland) · 2013Review
- Direct evidence for the adaptive role of copy number variation on antifolate susceptibility in Plasmodium falciparum.Molecular microbiology · 2013Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association scans (GWASs) using single nucleotide polymorphisms (SNPs) have been completed successfully for several common disorders and have detected over 30 new associations. Considering the large sample sizes and genome-wide SNP coverage of the scans, one might have expected many of the common variants underpinning the genetic component of various disorders to have been identified by now. However, these studies have not evaluated the contribution of other forms of genetic variation, such as structural variation, mainly in the form of copy number variants (CNVs). Known CNVs account for over 15% of the assembled human genome sequence. Since CNVs are not easily tagged by SNPs, might have a wide range of copy number variability, and often fall in genomic regions not well covered by whole-genome arrays or not genotyped by the HapMap project, current GWASs have largely missed the contribution of CNVs to complex disorders. In fact, some CNVs have already been reported to show association with several complex disorders using candidate gene/region approaches, underpinning the importance of regions not investigated in current GWASs. This reveals the need for new generation arrays (some already in the market) and the use of tailored approaches to explore the full dimension of genome variability beyond the single nucleotide scale.
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