Article
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
American journal of human genetics - 3 Oct 2013
Dorschner Michael O, Amendola Laura M, Turner Emily H, Robertson Peggy D, Shirts Brian H, Gallego Carlos J, Bennett Robin L, Jones Kelly L, Tokita Mari J, Bennett James T, Kim Jerry H, Rosenthal Elisabeth A, Kim Daniel S, Tabor Holly K, Bamshad Michael J, Motulsky Arno G, Scott C Ronald, Pritchard Colin C, Walsh Tom, Burke Wylie, Raskind Wendy H, Byers Peter, Hisama Fuki M, Nickerson Deborah A, Jarvik Gail P
Abstract excerpt
The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no large-scale study has yet estimated the number of expected actionable findings per individual; therefore, we classified actionable pathogenic single-nucleotide variants in 500 European- and 500 African-descent participants randomly selected from the National...
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