Article
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Human molecular genetics - 1 Jan 2007
Simon-Sanchez Javier, Scholz Sonja, Fung Hon-Chung, Matarin Mar, Hernandez Dena, Gibbs J Raphael, Britton Angela, de Vrieze Fabienne Wavrant, Peckham Elizabeth, Gwinn-Hardy Katrina, Crawley Anthony, Keen Judith C, Nash Josefina, Borgaonkar Digamber, Hardy John, Singleton Andrew
Abstract excerpt
The recent hapmap effort has placed focus on the application of genome-wide SNP analysis to assess the contribution of genetic variability, particularly SNPs, to traits such as disease. Here, we describe the utility of genome-wide SNP analysis in the direct detection of extended homozygosity and structural genomic variation. We use this approach to assess the frequency of genomic alterations resulting from the...
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