Article
A comprehensive analysis of common copy-number variations in the human genome.
American journal of human genetics - 1 Jan 2007
Wong Kendy K, deLeeuw Ronald J, Dosanjh Nirpjit S, Kimm Lindsey R, Cheng Ze, Horsman Douglas E, MacAulay Calum, Ng Raymond T, Brown Carolyn J, Eichler Evan E, Lam Wan L
Abstract excerpt
Segmental copy-number variations (CNVs) in the human genome are associated with developmental disorders and susceptibility to diseases. More importantly, CNVs may represent a major genetic component of our phenotypic diversity. In this study, using a whole-genome array comparative genomic hybridization assay, we identified 3,654 autosomal segmental CNVs, 800 of which appeared at a frequency of at least 3%. Of...
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