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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Association Studies Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381751/
https://www.ncbi.nlm.nih.gov/pubmed/25424174
http://dx.doi.org/10.1093/hmg/ddu581

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