Cited by 1,207Genomic variations and chromosomal abnormalitiesGenome Rearrangement AlgorithmsChromosomal and Genetic Variations

Copy number variation in human health, disease, and evolution

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Zhang, Feng, Gu, Wenli, Hurles, Matthew E., Lupski, James R.·2009·Annual Review of Genomics and Human Genetics

Abstract

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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Crossref · 10.1146/annurev.genom.9.081307.164217

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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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Research works printed but not linked: 1

  1. [79]Lejeune J Gautier M Turpin R Etude des chromosomes somatiques de neuf enfants mongoliens C. R. Acad. Sci 1959 248 1721 22 13639368

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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
Published
2009-09-01
Volume
10
Issue
1
Pages
451-481
ISSN
  • 1527-8204 (ISSN-L)
  • 1545-293X
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
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

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