Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
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Craddock, Nick; Hurles, Matthew; Cardin, Niall; Pearson, Richard; Plagnol, Vincent; Robson, Samuel; Vukcevic, Damjan; Barnes, Chris; Conrad, Donald; Giannoulatou, Eleni; Andrews, Thomas Daniel
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated 50% of all common CNVs larger than 500 base...[Show more]
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