A robust statistical method for case-control association testing with copy number variation.

Journal article

Copy number variation (CNV) is pervasive in the human genome and can play a causal role in genetic diseases. The functional impact of CNV cannot be fully captured through linkage disequilibrium with SNPs. These observations motivate the development of statistical methods for performing direct CNV association studies. We show through simulation that current tests for CNV association are prone to false-positive associations in the presence of differential errors between cases and controls, espe...

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Authors: Barnes, C; Plagnol, V; Fitzgerald, T; Redon, R; Marchini, J

• Publication status: Published
• Journal: Nature genetics
• Volume: 40
• Issue: 10
• Pages: 1245-1252
• Publication date: 2008-10-01
• DOI: 10.1038/ng.206
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: DNA; Models, Genetic; Chromosomes, Human; Genome, Human; Humans; Polymerase Chain Reaction; Diabetes Mellitus, Type 1; Gene Dosage; Haplotypes; Oligonucleotide Array Sequence Analysis; Computer Simulation; Cohort Studies; Case-Control Studies; Polymorphism, Single Nucleotide; Quantitative Trait Loci