title: Copy-number variants in neurodevelopmental disorders: promises and challenges.
abstract: Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome. There is emerging evidence that copy-number variants (CNVs) provide a new vista on understanding susceptibility to neuropsychiatric disorders. Some challenges in the interpretation of current CNV studies include the use of overlapping samples, differing phenotypic definitions, an absence of population norms for CNVs and a lack of consensus in methods for CNV detection and analysis. Here, we review current CNV association study methods and results in autism spectrum disorders (ASD) and schizophrenia, and provide suggestions for design approaches to future studies that might maximize the translation of this work to etiological understanding.
authors.affiliation: Department of Psychiatry, Trinity Centre for Health Sciences, St. James Hospital, Dublin, Ireland. merikana@tcd.ie
authors.forename: Alison K
authors.initials: AK
authors.lastname: Merikangas
authors.forename: Aiden P
authors.initials: AP
authors.lastname: Corvin
authors.forename: Louise
authors.initials: L
authors.lastname: Gallagher
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics*; D056915:DNA Copy Number Variations; D006801:Humans; D012559:Schizophrenia / Q000235:genetics*