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10.1146/annurev.genom.9.081307.164217

http://scihub22266oqcxt.onion/10.1146/annurev.genom.9.081307.164217
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C4472309!4472309!19715442
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suck abstract from ncbi


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pmid19715442      Annu+Rev+Genomics+Hum+Genet 2009 ; 10 (ä): 451-81
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  • Copy Number Variation in Human Health, Disease, and Evolution #MMPMID19715442
  • Zhang F; Gu W; Hurles ME; Lupski JR
  • Annu Rev Genomics Hum Genet 2009[]; 10 (ä): 451-81 PMID19715442show ga
  • 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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