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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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
Schlagworte:
Association Studies Articles
Online Zugang: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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