Article
Incidental copy-number variants identified by routine genome testing in a clinical population.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2013
Boone Philip M, Soens Zachry T, Campbell Ian M, Stankiewicz Pawel, Cheung Sau Wai, Patel Ankita, Beaudet Arthur L, Plon Sharon E, Shaw Chad A, McGuire Amy L, Lupski James R
Abstract excerpt
PURPOSE: Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained. METHODS: Array comparative genomic hybridization, a method for genome-wide detection of DNA copy-number variants, was performed clinically on DNA from 9,005...
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