July 7, 2019  |  

Copy number variation probes inform diverse applications

Authors: Stein, Richard A

A major contributor to inter-individual genomic variability is copy number variation (CNV). CNVs change the diploid status of the DNA, involve one or multiple genes, and may disrupt coding regions, affect regulatory elements, or change gene dosage. While some of these changes may have no phenotypic consequences, others underlie disease, explain evolutionary processes, or impact the response to medication.

Journal: Genetic engineering & biotechnology news
DOI: 10.1089/gen.37.18.06
Year: 2017

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