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Chunk #18 — CNV Studies Put the Rare Variant-Common Disease Model to the Test

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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A CNV-based approach is also attractive for methodological reasons. Microarrays continue to be a mainstay technology platform for large scale genetic studies. Such dense oligonucleotide arrays are well suited to the detection of a predetermined panel of SNPs and for detection of large-scale copy number variants. Current genotyping platforms and CNV discovery algorithms enable the genotyping of ~1000 common copy number polymorphisms (CNPs) and the discovery of additional “novel” CNVs, including mutations that are rare or unique to an individual (Alkan et al., 2011). It is these rare CNVs that have provided the first glimpse into the many rare mutations that contribute to common psychiatric disease.