Fig. 1.

Flow chart of analysis procedure and variant assessment. DNA samples of 43 individuals were processed by targeted, panel-based next-generation sequencing (absolute number of patients). In the group of patients with unknown platelet defect, variants were initially classified using in silico filtering programs and gene databases (phase 1 variant assessment). In a second step, class 3 variants (variants of uncertain significance) were assessed with respect to clinical phenotype, segregation analysis, literature, in vitro data, and animal models (phase 2 variant assessment). DNA, deoxyribonucleic acid; WES, whole exome sequencing; WGS, whole genome sequencing.