A state-based approach to genomics for rare disease and population screening.
Kelly M EastWhitley V KelleyAshley CannonMeagan E CochranIrene P MossThomas MayMariko Nakano-OkunoStephen O SodekeJeffrey C EdbergJames J CiminoMona FouadWilliam A CurryAnna C E HurstKevin M BowlingMichelle L ThompsonE Martina BebinRobert D Johnsonnull nullGregory M CooperMatthew MightGregory S BarshBruce R KorfPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
AGHI demonstrates the ability to provide useful health information in two contexts: rare undiagnosed disease and population screening. This utility should motivate continued exploration of ways in which emerging genomic technologies might benefit broad populations.