title: CNVs: harbingers of a rare variant revolution in psychiatric genetics.
abstract: The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry. Genome-wide studies of copy number variation (CNV) have given rise to a new understanding of disease etiology, bringing rare variants to the forefront. A proportion of risk for schizophrenia, bipolar disorder, and autism can be explained by rare mutations. Such alleles arise by de novo mutation in the individual or in recent ancestry. Alleles can have specific effects on behavioral and neuroanatomical traits; however, expressivity is variable, particularly for neuropsychiatric phenotypes. Knowledge from CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole-genome sequencing.
authors.affiliation: Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 1020103, USA.
authors.forename: Dheeraj
authors.initials: D
authors.lastname: Malhotra
authors.forename: Jonathan
authors.initials: J
authors.lastname: Sebat
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D009154:Mutation; D012559:Schizophrenia / Q000235:genetics; D012727:Sex Characteristics