Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.

Kaitlyn ZennerDana M JensenTori T CookVictoria DmyterkoRandall A BlySheila GantiGhayda M MirzaaWilliam B DobynsJonathan A PerkinsJames T Bennett

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Variants were detected in plasma from AVM and VeM patients, and in cyst fluid from patients with LM. These data support investigation of cfDNA-based molecular diagnostics for VM patients, which may provide opportunities to initiate targeted pharmacotherapies without prior surgery.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
patient reported outcomes
atrial fibrillation
drug delivery
acute coronary syndrome
single molecule
cancer therapy
copy number
deep learning
surgical site infection