Copy number variation in human health, disease, and evolution.
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ABSTRACT:
SUBMITTER: Zhang F
PROVIDER: S-EPMC4472309 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Publications
Copy number variation in human health, disease, and evolution.
Zhang Feng F Gu Wenli W Hurles Matthew E ME Lupski James R JR
Annual review of genomics and human genetics 20090101
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, incl ...[more]
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