Article
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
American journal of human genetics - 7 Aug 2014
Tabor Holly K, Auer Paul L, Jamal Seema M, Chong Jessica X, Yu Joon-Ho, Gordon Adam S, Graubert Timothy A, O'Donnell Christopher J, Rich Stephen S, Nickerson Deborah A, Bamshad Michael J
Abstract excerpt
Exome sequencing (ES) is rapidly being deployed for use in clinical settings despite limited empirical data about the number and types of incidental results (with potential clinical utility) that could be offered for return to an individual. We analyzed deidentified ES data from 6,517 participants (2,204 African Americans and 4,313 European Americans) from the National Heart, Lung, and Blood Institute Exome...
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