In:
Annual Review of Genomics and Human Genetics, Annual Reviews, Vol. 10, No. 1 ( 2009-09-01), p. 451-481
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.
Type of Medium:
Online Resource
ISSN:
1527-8204
,
1545-293X
DOI:
10.1146/genom.2009.10.issue-1
DOI:
10.1146/annurev.genom.9.081307.164217
Language:
English
Publisher:
Annual Reviews
Publication Date:
2009
detail.hit.zdb_id:
2033916-1
SSG:
12
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