A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Jessica Ezzell HunterStephanie A IrvingLeslie G BieseckerAdam H BuchananBrian JensenKristy LeeChrista Lese MartinLaura MilkoKristin R MuessigAnnie D NiehausJulianne M O'DanielMargaret A PiperErin M RamosSheri D SchullyAlan F ScottAnne SlavotinekNara SobreiraNatasha StrandeMeredith WeaverElizabeth M WebberMarc S WilliamsJonathan S BergJames P EvansKatrina A B GoddardPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The ClinGen framework for actionability assessment will assist research and clinical communities in making clear, efficient, and consistent determinations of actionability based on transparent criteria to guide analysis and reporting of findings from clinical genome-scale sequencing.Genet Med 18 12, 1258-1268.