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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7606791/
https://ncbi.nlm.nih.gov/pubmed/32606442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0881-7
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