Article
Population-genetic nature of copy number variations in the human genome.
Human molecular genetics - 1 Mar 2010
Kato Mamoru, Kawaguchi Takahisa, Ishikawa Shumpei, Umeda Takayoshi, Nakamichi Reiichiro, Shapero Michael H, Jones Keith W, Nakamura Yusuke, Aburatani Hiroyuki, Tsunoda Tatsuhiko
Abstract excerpt
Copy number variations (CNVs) are universal genetic variations, and their association with disease has been increasingly recognized. We designed high-density microarrays for CNVs, and detected 3000-4000 CNVs (4-6% of the genomic sequence) per population that included CNVs previously missed because of smaller sizes and residing in segmental duplications. The patterns of CNVs across individuals were surprisingly...
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