Article
Large-scale copy number polymorphism in the human genome.
Science (New York, N.Y.) - 23 Jul 2004
Sebat Jonathan, Lakshmi B, Troge Jennifer, Alexander Joan, Young Janet, Lundin Pär, Månér Susanne, Massa Hillary, Walker Megan, Chi Maoyen, Navin Nicholas, Lucito Robert, Healy John, Hicks James, Ye Kenny, Reiner Andrew, Gilliam T Conrad, Trask Barbara, Patterson Nick, Zetterberg Anders, Wigler Michael
Abstract excerpt
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing...
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