Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process

Figure 5

Filtering steps applied to all mutations in the exome (primary ciliary dyskinesia example). After all the filtering steps in the above figure are applied, the total will be reduced to a single candidate. The numbers here are for illustration purposes only (adapted from [39]). Homozygosity step is added as PCD is an autosomal recessive disorder. mutations are “predicted high impact” mutations as proposed by Alsaadi et al. [39] (see PHI_SO_terms.txt in Supplementary data).