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Chunk #23 — CNV Studies Put the Rare Variant-Common Disease Model to the Test — Single marker or association of target regions or genes

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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Although these approaches were popularized in the context of CNV studies, the same principles apply to any mutation discovery platform, including exome and whole genome sequencing, as exemplified by the first exome studies in ASD and schizophrenia (Girard et al., 2011; O’Roak et al., 2011; Xu et al., 2011). A lengthy review of genetic studies could be written about each of the following disorders. Here, we will focus on the key concepts that form our current understanding of psychiatric genetics.