Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

Joline L SaesAnnet SimonsSonja A de MunnikMarten R NijzielNicole M A BlijlevensMarjolijn C JongmansBert A van der ReijdenYolba SmitPaul P BronsWaander L van HeerdeSaskia E M Schols

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2018)

Based on our findings, we conclude that performing WES at the end of the diagnostic trajectory can be of additive value to explain the complete bleeding phenotype in patients without a definite diagnosis after conventional laboratory tests. Discovery of combinations of (novel) genes that predispose to bleeding will increase the diagnostic yield in patients with an unexplained bleeding diathesis.

Keyphrases

atrial fibrillation
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
small molecule
prognostic factors
peritoneal dialysis
genome wide
gene expression
high throughput