Article
Actionable Genotypes and Their Association with Life Span in Iceland.
The New England journal of medicine - 9 Nov 2023
Jensson Brynjar O, Arnadottir Gudny A, Katrinardottir Hildigunnur, Fridriksdottir Run, Helgason Hannes, Oddsson Asmundur, Sveinbjornsson Gardar, Eggertsson Hannes P, Halldorsson Gisli H, Atlason Bjarni A, Jonsson Hakon, Oskarsson Gudjon R, Sturluson Arni, Gudjonsson Sigurjon A, Thorisson Gudmundur A, Zink Florian, Moore Kristjan H S, Palsson Gunnar, Sigurdsson Asgeir, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Magnusson Magnus K, Helgadottir Anna, Steinthorsdottir Valgerdur, Gudmundsson Julius, Stacey Simon N, Hilmarsson Rafn, Olafsson Isleifur, Johannsson Oskar T, Arnar David O, Saemundsdottir Jona, Magnusson Olafur T, Masson Gisli, Halldorsson Bjarni V, Helgason Agnar, Stefansson Hreinn, Jonsdottir Ingileif, Holm Hilma, Rafnar Thorunn, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Stefansson Kari, Sulem Patrick
Abstract excerpt
BACKGROUND: In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations of the association of actionable genotypes in these genes with life span are currently lacking. METHODS: We assessed the prevalence of coding and splice variants in genes on the ACMG...
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