A short primer on the functional analysis of copy number variation for biomedical scientists.
Recent studies have highlighted the potential prevalence of copy number variation (CNV) in mammalian genomes, including the human genome. These studies suggest that CNVs may play a potentially important role in human phenotypic diversity and disease susceptibility. Here, we consider some of the in silico challenges of characterizing genomic structural variants. While the phenotypic impact of the vast majority of CNVs is likely to be neutral, some CNVs will clearly impact phenotype. Here, we review some of the key databases hosting CNV data and discuss some of the caveats in the analysis of CNV data. The task is now to translate some of the initial associations between CNVs and disease into causal variants.
Barnes
Michael R
MR
Medicines Research Centre, GlaxoSmithKline Research & Development Limited, Stevenage, Hertfordshire, UK.
Breen
Gerome
G
D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics; D056915:DNA Copy Number Variations; D015894:Genome, Human; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics; D019006:Neural Cell Adhesion Molecules; D012559:Schizophrenia / Q000235:genetics
D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules