Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

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 cond...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606791/
https://www.ncbi.nlm.nih.gov/pubmed/32606442
http://dx.doi.org/10.1038/s41436-020-0881-7

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