CNV discovery using SNP genotyping arrays

Cytogenet Genome Res. 2008;123(1-4):307-12. doi: 10.1159/000184722. Epub 2009 Mar 11.


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.

Publication types

  • Review

MeSH terms

  • Gene Dosage / genetics*
  • Humans
  • Models, Genetic
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide / genetics*