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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Abstract:

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 approximately 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated approximately 50% of all common ...

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Publication status:
Published

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Publisher copy:
10.1038/nature08979

Authors


Craddock, N More by this author
Hurles, ME More by this author
Pearson, RD More by this author
Plagnol, V More by this author
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Journal:
Nature
Volume:
464
Issue:
7289
Pages:
713-720
Publication date:
2010-04-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:6eca0fbc-ec5e-457a-ae39-58ba310a825f
Source identifiers:
52643
Local pid:
pubs:52643

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