Copy number variation in the human genome and its implications for cardiovascular disease.

Unlocking the information contained within the human genome will likely advance our understanding of cardiovascular (CV) health and disease by leading to discovery of new molecules, pathways, and networks. A central strategy in genetic studies of CV disease has been to correlate human genomic DNA variation with clinical phenotypes, such as myocardial infarction, heart failure, stroke, and their risk factors, with a range of experimental designs and analytical procedures. The ability to detect genomic differences between individuals is the foundation of this research. Human genomic variation exists in many forms, each of which has unique qualitative and quantitative features. Each form of human genomic variation is composed of many individual variants that occur across the genome. The population frequency of individual variants can range from rare to common. The effect of a specific genomic variant can range from beneficial to neutral to deleterious. To rapidly translate genomic knowledge into diagnosis and treatment of CV disease, it is logical to search for common genomic variants that have a non-neutral impact. In the recent past, one form of genomic variation, the single-nucleotide variant, has dominated the experimental landscape: It is the currency of present genetic CV disease studies. However, recent developments indicate that the focus on single-nucleotide polymorphisms (SNPs) alone will not capture the full range of meaningful human genomic variation, such as a newly characterized and annotated form called copy number variation (CNV).