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

doi:10.1093/hmg/ddu581

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

Human molecular genetics - 15 Mar 2015

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

Abstract excerpt

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 the Log-R-ratio intensity data from a dense single nucleotide polymorphism (SNP) array, ImmunoChip, to detect rare...

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

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