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Methods and strategies for analyzing copy number variation using DNA microarrays Carter NPNat Genet 2007[Jul]; 39 (7 Suppl): S16-21The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are variable in copy number, and this diversity is likely to be responsible for a significant proportion of normal phenotypic variation. Current challenges involve developing methods not only for detecting and cataloging CNVs in human populations at increasingly higher resolution but also for determining the association of CNVs with biological function, recent human evolution, and common and complex human disease.|*Gene Dosage[MESH]|*Genetic Variation[MESH]|Chromosomes, Artificial, Bacterial/genetics[MESH]|Chromosomes, Human, Pair 18/genetics[MESH]|Cloning, Molecular[MESH]|DNA, Complementary/genetics[MESH]|Genome, Human[MESH]|Genotype[MESH]|Humans[MESH]|Nucleic Acid Hybridization[MESH]|Oligonucleotide Array Sequence Analysis/*methods[MESH]|Phenotype[MESH]|Polymerase Chain Reaction[MESH]|Polymorphism, Single Nucleotide[MESH] |
