Article
Targeted screening and validation of copy number variations.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2012
Ceulemans Shana, van der Ven Karlijn, Del-Favero Jurgen
Abstract excerpt
The accessibility of genome-wide screening technologies considerably facilitated the identification and characterization of copy number variations (CNVs). The increasing amount of available data describing these variants, clearly demonstrates their abundance in the human genome. This observation shows that not only SNPs, but also CNVs and other structural variants strongly contribute to genetic variation. Even...
Topics
- DNA Copy Number Variations
- Gene Dosage
- Genome, Human
- Humans
- In Situ Hybridization, Fluorescence
- Multiplex Polymerase Chain Reaction
- Nucleic Acid Hybridization
- Polymorphism, Single Nucleotide
- Real-Time Polymerase Chain Reaction
- Validation Studies as Topic