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Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs). This allows for 'generalised' genotyping of both SNPs and CNVs simultaneously on a common sample set, with advantages in terms of cost and unified analysis. In this article we review various statistical approaches to calling CNVs from SNP data. We highlight three tiers of algorithms depending on the level of information used.

Original publication




Journal article


Cytogenetic and genome research

Publication Date





307 - 312


Department of Statistics, University of Oxford, Oxford, UK.


Humans, Oligonucleotide Array Sequence Analysis, Gene Dosage, Polymorphism, Single Nucleotide, Models, Genetic