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Trends Genet. 2009 Dec;25(12):536-44. doi: 10.1016/j.tig.2009.10.006. Epub 2009 Nov 10.

Copy-number variants in neurodevelopmental disorders: promises and challenges.

Author information

1
Department of Psychiatry, Trinity Centre for Health Sciences, St. James Hospital, Dublin, Ireland. merikana@tcd.ie

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.

PMID:
19910074
DOI:
10.1016/j.tig.2009.10.006
[Indexed for MEDLINE]

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