Copy number variation in human health, disease, and evolution
Open accessAbstract
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-specific mutation rates appear much higher for CNVs than for SNPs. By various molecular mechanisms, including gene dosage, gene disruption, gene fusion, position effects, etc., CNVs can cause Mendelian or sporadic traits, or be associated with complex diseases. However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution.
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Clinical diagnostic methods currently include FISH, CGH, SNP arrays, deep sequencing and real-time quantitative PCR (qPCR).
“Clinical diagnostic methods currently include fluorescence in situ hybridization (FISH), comparative genome hybridisation (CGH), single nucleotide polymorphism (SNP) arrays, deep sequencing and real-time quantitative PCR (qPCR) (8–10).”
From Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation (2012) · cites this paper as [10]
The ‘Copy Number Variation and Structural Variation: The Phenomenon’ section (page not supplied) identifies SNP arrays, CGH arrays and DNA sequencing as methods for investigating copy-number variation. The paper also describes array-CGH used to investigate patients, but the passages found do not establish the full list as clinical diagnostic methods or support its inclusion of FISH and real-time qPCR. (LLM, conf=0.84)
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- Authors
- Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R.
- Affiliations
- Baylor College of Medicine (US)
- Wellcome Sanger Institute (GB)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2009-09-01
- Volume
- 10
- Issue
- 1
- Pages
- 451-481
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- PMC
- PMC4472309
- OpenAlex
- W2162927194
- Cited by
- 1,207
- References
- 190
- Citations by year
- 2026: 36 · 2025: 56 · 2024: 79 · 2023: 49 · 2022: 67 · 2021: 64 · 2020: 65 · 2019: 76 · 2018: 73 · 2017: 66 · 2016: 71 · 2015: 69 · 2014: 80 · 2013: 70 · 2012: 97
- FWCI
- 8.97
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust
- National Institute of Neurological Disorders and Stroke (R01NS058529)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- copy number variation, genetic diversity, de novo mutations, gene dosage, gene disruption, gene fusion, position effect, Mendelian traits, complex diseases, gene duplication, exon shuffling, genome evolution
- MeSH terms
- Animals, Disease, DNA, DNA Replication, Humans, Gene Dosage, Evolution, Molecular, Polymorphism, Single Nucleotide, Comparative Genomic Hybridization
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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