paperKB
coga / coga-kb
Help
Sign in

Chunk #16 — CNV Studies Put the Rare Variant-Common Disease Model to the Test

Source
CNVs: harbingers of a rare variant revolution in psychiatric genetics.
Embedded
yes

Text

Within the context of psychiatric genetic studies, “CNV” has come to be virtually synonymous with “rare variant.” In truth, structural variants come in many shapes, sizes and allele frequencies, and a majority of variants present in an individual genome are common alleles (Conrad et al., 2010; McCarroll et al., 2008; Mills et al., 2011; Sudmant et al., 2010). However, it is the rare CNVs that have garnered great attention (Sebat et al., 2009).