ArticleAmerican journal of human genetics2010
Identification of copy number variation hotspots in human populations.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.Cell genomics · 2022Article
- Ancestral haplotype reconstruction in endogamous populations using identity-by-descent.PLoS computational biology · 2021Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens.BMC medical genomics · 2018Article
- High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiens.Scientific reports · 2017Article
- Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.Genetics research · 2015Article
- CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.Human molecular genetics · 2015Article
- Genome architecture and its roles in human copy number variation.Genomics & informatics · 2014Review
- Human gene copy number variation and infectious disease.Human genetics · 2014Review
- Article
- Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.Human molecular genetics · 2013Article
- Detecting negative selection on recurrent mutations using gene genealogy.BMC genetics · 2013Article
- Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.American journal of human genetics · 2013Article
- Widespread divergence of the CEACAM/PSG genes in vertebrates and humans suggests sensitivity to selection.PloS one · 2013Article
- Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Human genetics · 2012Article
- Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.American journal of human genetics · 2012Article
- Exploring the role of copy number variants in human adaptation.Trends in genetics : TIG · 2012Review
- Analysis of Arabidopsis genome-wide variations before and after meiosis and meiotic recombination by resequencing Landsberg erecta and all four products of a single meiosis.Genome research · 2012Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variants (CNVs) in the human genome contribute to both Mendelian and complex traits as well as to genomic plasticity in evolution. The investigation of mutational rates of CNVs is critical to understanding genomic instability and the etiology of the copy number variation (CNV)-related traits. However, the evaluation of the CNV mutation rate at the genome level poses an insurmountable practical challenge that requires large samples and accurate typing. In this study, we show that an approximate estimation of the CNV mutation rate could be achieved by using the phylogeny information of flanking SNPs. This allows a genome-wide comparison of mutation rates between CNVs with the use of vast, readily available data of SNP genotyping. A total of 4187 CNV regions (CNVRs) previously identified in HapMap populations were investigated in this study. We showed that the mutation rates for the majority of these CNVRs are at the order of 10⁻⁵ per generation, consistent with experimental observations at individual loci. Notably, the mutation rates of 104 (2.5%) CNVRs were estimated at the order of 10⁻³ per generation; therefore, they were identified as potential hotspots. Additional analyses revealed that genome architecture at CNV loci has a potential role in inciting mutational hotspots in the human genome. Interestingly, 49 (47%) CNV hotspots include human genes, some of which are known to be functional CNV loci (e.g., CNVs of C4 and β-defensin causing autoimmune diseases and CNVs of HYDIN with implication in control of cerebral cortex size), implicating the important role of CNV in human health and evolution, especially in common and complex diseases.
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