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Global variation in copy number in the human genome

Redon, Richard; Ishikawa, Shumpei; Fitch, Karen; Feuk, Lars; Andrews, Thomas Daniel; Fiegler, Heike; Shapero, Michael; Carson, Andrew; Chen, Wenwei; Cho, Eun Kyung; Dallaire, Stephanie


Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A...[Show more]

CollectionsANU Research Publications
Date published: 2006
Type: Journal article
Source: Nature
DOI: 10.1038/nature05329


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