Copy Number Variations in the Human Genome and Strategies for Analysis
互联网
413
The structure and sequence of the genome is immensely variable in the human population. Segmental copy number variants (CNVs) contribute to the extensive phenotypic diversity among humans and have been shown to associate with disease susceptibility. In this article, we provide a detailed review of human genetic variations and the experimental approaches used to discover, catalog, and genotype CNVs.
