title: Copy number variation in human health, disease, and evolution.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.forename: Wenli
authors.initials: W
authors.lastname: Gu
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000818:Animals; D055028:Comparative Genomic Hybridization; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004261:DNA Replication; D004194:Disease / Q000235:genetics*; D019143:Evolution, Molecular; D018628:Gene Dosage; D006801:Humans; D020641:Polymorphism, Single Nucleotide
chemical_list: D004247:DNA