Article
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
The New England journal of medicine - 5 Jan 2017
Posey Jennifer E, Harel Tamar, Liu Pengfei, Rosenfeld Jill A, James Regis A, Coban Akdemir Zeynep H, Walkiewicz Magdalena, Bi Weimin, Xiao Rui, Ding Yan, Xia Fan, Beaudet Arthur L, Muzny Donna M, Gibbs Richard A, Boerwinkle Eric, Eng Christine M, Sutton V Reid, Shaw Chad A, Plon Sharon E, Yang Yaping, Lupski James R
Abstract excerpt
BACKGROUND: Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes. METHODS: We conducted a retrospective analysis of data from a series of 7374 consecutive unrelated patients who had been referred to a clinical diagnostic laboratory for whole-exome sequencing; our goal was to determine the frequency and clinical characteristics of patients...
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