Article
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2014
Lawrence Lauren, Sincan Murat, Markello Thomas, Adams David R, Gill Fred, Godfrey Rena, Golas Gretchen, Groden Catherine, Landis Dennis, Nehrebecky Michele, Park Grace, Soldatos Ariane, Tifft Cynthia, Toro Camilo, Wahl Colleen, Wolfe Lynne, Gahl William A, Boerkoel Cornelius F
Abstract excerpt
PURPOSE: Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable incidental sequence variants. METHODS: Following the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings from next-generation sequencing, we extracted variants in 56 genes...
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