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- W1835519005 abstract "Importance. The American College of Medical Genetics and Genomics recommends informing individuals who carry mutations in a set of Mendelian disease genes that might require clinical action regardless of genetic testing indication. However, whether such mutations lead to an increased risk for diseases in individuals not referred for clinical genetic testing has not been evaluated. Objective. To evaluate whether those in the unselected general population who carry potentially actionable mutations are more likely to manifest the associated diseases than those without such mutations. Design, Setting, and Participants. Cross-sectional observational study of participants enrolled in the Jackson Heart Study (Jackson, MS) between 2000 and 2004 who underwent whole exome sequencing (n = 3223). All participants were on African descent. Exposures. Mutations across a set of 56 recommended clinically actionable genes ascertained by whole exome sequencing." @default.
- W1835519005 created "2016-06-24" @default.
- W1835519005 creator A5047884631 @default.
- W1835519005 date "2015-09-29" @default.
- W1835519005 modified "2023-09-27" @default.
- W1835519005 title "Association of Clinical Features With Incidental Findings From Exome Sequencing in 3,223 African Americans" @default.
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