Article
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Genome research - 1 Dec 2006
Komura Daisuke, Shen Fan, Ishikawa Shumpei, Fitch Karen R, Chen Wenwei, Zhang Jane, Liu Guoying, Ihara Sigeo, Nakamura Hiroshi, Hurles Matthew E, Lee Charles, Scherer Stephen W, Jones Keith W, Shapero Michael H, Huang Jing, Aburatani Hiroyuki
Abstract excerpt
Recent reports indicate that copy number variations (CNVs) within the human genome contribute to nucleotide diversity to a larger extent than single nucleotide polymorphisms (SNPs). In addition, the contribution of CNVs to human disease susceptibility may be greater than previously expected, although a complete understanding of the phenotypic consequences of CNVs is incomplete. We have recently reported a...
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