Molecular diagnostic experience of whole-exome sequencing in adult patients.

Jennifer E Posey Jill Anne RosenfeldRegis A JamesMatthew BainbridgeZhiyv NiuXia Wang Shweta U DharWojciech WiszniewskiZeynep H C AkdemirTomasz GambinFan XiaRichard E PersonMagdalena WalkiewiczChad A ShawV Reid SuttonArthur L BeaudetDonna MuznyChristine M EngYaping YangRichard A GibbsJames R LupskiEric BoerwinkleSharon E Plon

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Early WES experience in adults demonstrates molecular diagnoses in a substantial proportion of patients, informing clinical management, recurrence risk, and recommendations for relatives. A positive family history was not predictive, consistent with molecular diagnoses often revealed by de novo events, informing the Mendelian basis of genetic disease in adults.Genet Med 18 7, 678-685.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
single molecule
prognostic factors
peritoneal dialysis
genome wide
gene expression
copy number