Article
A Genocentric Approach to Discovery of Mendelian Disorders.
American journal of human genetics - 7 Nov 2019
Hansen Adam W, Murugan Mullai, Li He, Khayat Michael M, Wang Liwen, Rosenfeld Jill, Andrews B Kim, Jhangiani Shalini N, Coban Akdemir Zeynep H, Sedlazeck Fritz J, Ashley-Koch Allison E, Liu Pengfei, Muzny Donna M, Davis Erica E, Katsanis Nicholas, Sabo Aniko, Posey Jennifer E, Yang Yaping, Wangler Michael F, Eng Christine M, Sutton V Reid, Lupski James R, Boerwinkle Eric, Gibbs Richard A
Abstract excerpt
The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of their clinical phenotype remains unknown. In many cases, detailed phenotypes are unavailable or poorly recorded and there is little family history to guide study. To...
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