When moments matter: Finding answers with rapid exome sequencing.
Zöe PowisKelly D F HagmanKirsten BlancoMargaret AuJohn M GrahamKathryn SinghNatalie GallantLinda M RandolphMeghan C TowneJesse HunterDeepali N ShindeErika PalmaerBrian SchoenfeldSha TangPublished in: Molecular genetics & genomic medicine (2019)
Our observations demonstrate the utility and effectiveness of rapid family-based diagnostic exome sequencing in improving patients care.
Keyphrases
- end stage renal disease
- single cell
- ejection fraction
- healthcare
- chronic kidney disease
- newly diagnosed
- randomized controlled trial
- copy number
- palliative care
- prognostic factors
- systematic review
- peritoneal dialysis
- quality improvement
- loop mediated isothermal amplification
- dna methylation
- patient reported outcomes
- sensitive detection
- affordable care act