Article
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.
BMC genetics - 28 Mar 2008
Shen Fan, Huang Jing, Fitch Karen R, Truong Vivi B, Kirby Andrew, Chen Wenwei, Zhang Jane, Liu Guoying, McCarroll Steven A, Jones Keith W, Shapero Michael H
Abstract excerpt
BACKGROUND: DNA sequence diversity within the human genome may be more greatly affected by copy number variations (CNVs) than single nucleotide polymorphisms (SNPs). Although the importance of CNVs in genome wide association studies (GWAS) is becoming widely accepted, the optimal methods for identifying these variants are still under evaluation. We have previously reported a comprehensive view of CNVs in the...
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