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Updated: Jun 18, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Copy-number variants in neurodevelopmental disorders: promises and challenges
Alison K Merikangas1, Aiden P Corvin, Louise Gallagher
1Department of Psychiatry, Trinity Centre for Health Sciences, St. James Hospital, Dublin, Ireland. merikana@tcd.ie
Trends in Genetics : TIG
|November 14, 2009
Summary
Copy-number variants (CNVs) are common in the human genome and linked to neuropsychiatric disorders like autism spectrum disorder (ASD) and schizophrenia. Future studies need standardized methods for better etiological understanding.
Area of Science:
- Genomics
- Neuroscience
- Human Genetics
Background:
- Copy-number variation (CNV) represents the most common structural variation in the human genome.
- Emerging evidence suggests copy-number variants (CNVs) are crucial for understanding susceptibility to neuropsychiatric disorders.
Purpose of the Study:
- To review current methods and findings of CNV association studies in autism spectrum disorders (ASD) and schizophrenia.
- To propose design strategies for future studies to enhance etiological insights.
Main Methods:
- Review of existing literature on CNV association studies in ASD and schizophrenia.
- Analysis of challenges in current CNV research, including sample overlap, phenotypic definitions, lack of population norms, and methodological inconsistencies.
Main Results:
- CNVs are prevalent in the human genome and implicated in neuropsychiatric conditions.
- Current CNV studies face challenges hindering interpretation and translation to etiological understanding.
Conclusions:
- Standardized methodologies and population norms are essential for robust CNV association studies.
- Improved study designs can facilitate the translation of CNV research into etiological insights for neuropsychiatric disorders.
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