A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Jonathan S BergAnn Katherine M ForemanJulianne M O'DanielJessica K BookerLacey BosheTimothy CareyKristy R CrooksBrian C JensenEric T JuengstKristy LeeDaniel K NelsonBradford C PowellCynthia M PowellMyra I RocheCecile SkrzyniaNatasha T StrandeKaren E WeckKirk C WilhelmsenJames P EvansPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Gene-disease pairs having a score of 11 or higher represent the top quintile of actionability. The semiquantitative metric effectively assesses clinical actionability, promotes transparency, and may facilitate assessments of clinical actionability by various groups and in diverse contexts.Genet Med 18 5, 467-475.
Keyphrases