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

ConclusionBased 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.

Source: Haemophilia - November 15, 2018 Category: Hematology Authors: Joline L. Saes, Annet Simons, Sonja A. de Munnik, Marten R. Nijziel, Nicole M. A. Blijlevens, Marjolijn C. Jongmans, Bert A. van der Reijden, Yolba Smit, Paul P. Brons, Waander L. van Heerde, Saskia E. M. Schols Tags: ORIGINAL ARTICLE Source Type: research