Figure 1.

Classification of the 92 IPD patients sequenced with a novel HTS platform. Ninety-two unrelated patients with a suspicion of IPD were enrolled in the project “Functional and Molecular Characterization of Patients with Inherited Platelet Disorders”. Patients fell into 2 main groups: on the left, a validation group comprising 10 IPD patients harboring known pathogenic variants identified by Sanger sequencing (Online Supplementary Table S1), and on the right, a study group of 82 IPD patients with unknown molecular pathology. DNA from all patients was sequenced with an HTS platform targeting 72 genes (Table 1), as described in the Methods. The identified genetic variants were prioritized and assessed for pathogenicity, as stated in the Methods. IPD: inherited platelet disorder; HTS: high-throughput sequencing.