FIGURE 2.

Standard workflow for NGS approaches in the diagnosis of inherited bleeding and thrombotic disorders. The standard diagnostics workflow using NGS approaches consists of several steps. After informed consent is obtained through clinical consultations, patient blood samples are submitted to multigene panel testing. After data QC, processing, and variant prioritization, candidate variants are selected in multidisciplinary meetings. PVs and LPVs in TIER1 genes are reported to the clinician, while VUSs in TIER1 genes can be further investigated using functional assays or cosegregation analysis for variant reclassification. If a virtual multigene panel was used based on WES or WGS data, these data can further be used for gene discovery using RNA sequencing, functional assays, and family recall studies. LPV, likely pathogenic variant; PV, pathogenic variant; QC, quality control; VUS, variant of unknown significance; WES, whole‐exome sequencing; WGS, whole‐genome sequencing. Figure created with Biorender.com