Fig. 3From: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsSchematic illustration of the different components in our current bioinformatic pipeline (MIP 8.2). First (in white), FASTQ data is aligned to the human reference genome. Next, different variant types are called including SNV/INDEL (green), SV (yellow), STR (orange), and SMN (purple). Each variant type is then annotated and prioritized before it is vizualized in ScoutBack to article page