Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Copy number variants (CNVs) have been proposed as a possible source of ‘missing heritability’ in complex human diseases. Two studies of type 1 diabetes (T1D) found null associations with common copy number polymorphisms, but CNVs of low frequency and high penetrance could still play a role. We used...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Cooper, Nicholas J., Shtir, Corina J., Smyth, Deborah J., Guo, Hui, Swafford, Austin D., Zanda, Manuela, Hurles, Matthew E., Walker, Neil M., Plagnol, Vincent, Cooper, Jason D., Howson, Joanna M.M., Burren, Oliver S., Onengut-Gumuscu, Suna, Rich, Stephen S., Todd, John A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
Témata:
Association Studies Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4381751/
https://ncbi.nlm.nih.gov/pubmed/25424174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu581
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