Title |
Copy Number Variation in Human Health, Disease, and Evolution
|
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Published in |
Annual Review of Genomics & Human Genetics, September 2009
|
DOI | 10.1146/annurev.genom.9.081307.164217 |
Pubmed ID | |
Authors |
Feng Zhang, Wenli Gu, Matthew E. Hurles, James R. Lupski |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 24 | 2% |
United Kingdom | 12 | 1% |
Brazil | 8 | <1% |
Netherlands | 5 | <1% |
Spain | 3 | <1% |
Belgium | 3 | <1% |
Germany | 3 | <1% |
Canada | 3 | <1% |
Sweden | 2 | <1% |
Other | 23 | 2% |
Unknown | 1017 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 266 | 24% |
Researcher | 201 | 18% |
Student > Master | 144 | 13% |
Student > Bachelor | 105 | 10% |
Professor > Associate Professor | 48 | 4% |
Other | 183 | 17% |
Unknown | 156 | 14% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 459 | 42% |
Biochemistry, Genetics and Molecular Biology | 214 | 19% |
Medicine and Dentistry | 121 | 11% |
Computer Science | 38 | 3% |
Immunology and Microbiology | 13 | 1% |
Other | 84 | 8% |
Unknown | 174 | 16% |