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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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2015
Matèries:
Association Studies Articles
Accés en línia: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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