Copy number variations in the human genome and strategies for analysis.
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.
Vucic
Emily A
EA
Department of Cancer Genetics and Developmental Biology, British Columbia Cancer Research Centre, Vancouver, BC, Canada.
Thu
Kelsie L
KL
Williams
Ariane C
AC
Lam
Wan L
WL
Coe
Bradley P
BP
D056915:DNA Copy Number Variations; D020022:Genetic Predisposition to Disease; D005821:Genetic Techniques; D015894:Genome, Human; D006801:Humans