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Letter

Nature Genetics 40, 1199–1203 (1 October 2008) | doi:10.1038/ng.236

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

Gregory M Cooper , Troy Zerr , Jeffrey M Kidd , Evan E Eichler & Deborah A Nickerson

SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear.