Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Emily L GriffinShannon N NeesSarah U MortonJulia WynnNihir PatelVaidehi JobanputraScott RobinsonStephanie M KochavAlice TaoCarli AndrewsNancy CrossJudith GevaKristen LanzilottaAlyssa L RitterEileen TaillieAlexandra ThompsonChris MeyerRachel AkersEileen C KingJames F CnotaRichard W KimGeorge A PorterMartina BruecknerChristine E SeidmanYufeng ShenBruce D GelbElizabeth GoldmuntzJane W NewburgerAmy E RobertsWendy K ChungPublished in: Circulation. Genomic and precision medicine (2023)
The application of ClinGen criteria to CHD candidate genes yielded a list that can be used to interpret clinical genetic testing for CHD. Applying this gene list to one of the largest research cohorts of CHD participants provides a lower bound for the yield of genetic testing in CHD.