Article
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020
Lacaze Paul, Sebra Robert, Riaz Moeen, Tiller Jane, Revote Jerico, Phung James, Parker Emily J, Orchard Suzanne G, Lockery Jessica E, Wolfe Rory, Strahl Maya, Wang Ying C, Chen Rong, Sisco Daniel, Arnold Todd, Thompson Bryony A, Buchanan Daniel D, Macrae Finlay A, James Paul A, Abhayaratna Walter P, Lockett Trevor J, Gibbs Peter, Tonkin Andrew M, Nelson Mark R, Reid Christopher M, Woods Robyn L, Murray Anne M, Winship Ingrid, McNeil John J, Schadt Eric
Abstract excerpt
PURPOSE: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individuals. METHODS: We used targeted sequencing to detect pathogenic or likely pathogenic variants in 55 genes associated with autosomal dominant medically actionable conditions, among a population of 13,131 individuals aged 70 or older (mean age 75 years) enrolled in the ASPirin in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.