Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Salma ShickhMariana Gutierrez SalazarKathleen-Rose ZakoorConxi LázaroJessica GuJamie GoltzDakota KleinmanAbdul NoorSam KhaloueiChloe MightonEmma RebleRita KodidaYvonne BombardStephanie DiTroiaSamantha BaxterNicholas WatkinsMelanie CareArnon AdlerSheri HorsburghOana MorarJillian MurphyDayna-Lynn NevayMarta SzybowskaMelyssa AronsonSeema PanchalRuth GodoySpring HolterSusan Randall ArmelKara SemotiukChristine ElserRaymond H KimDavid ChitayatJoyce SoHanna FaghfouryJosh SilverChantal F MorelJordan Lerner- EllisPublished in: Journal of medical genetics (2020)
This study lends evidence to the diagnostic utility of exome or genome sequencing in an undiagnosed adult population. The significant increase in diagnostic yield warrants the use of this technology. The identification and communication of secondary findings may provide added value when using this testing modality as a first-line test.