A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza StarkTiong Y TanBelinda ChongGemma R BrettPatrick YapMaie WalshAlison YeungHeidi PetersDylan A MordauntShannon CowieDavid J AmorRavi SavarirayanGeorge McGillivrayLilian DowniePaul G EkertChristiane ThedaPaul A JamesJoy Yaplito-LeeMonique M RyanRichard J LeventerEmma CreedIvan MaccioccaKatrina M BellAlicia OshlackSimon SadedinPeter GeorgesonCharlotte AndersonNatalie Thornenull Melbourne Genomics Health AllianceClara GaffSusan M WhitePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
This prospective study provides strong evidence for increased diagnostic and clinical utility of singleton WES as a first-tier sequencing test for infants with a suspected monogenic disorder. Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner.Genet Med 18 11, 1090-1096.