Figure 2.
Enrichment methods. (a) PCR-based approach. Multiplex PCR kits enrich for a specific gene or panel of genes in a small number of PCR amplifications. (b) Molecular inversion probes consist of amplicons containing a universal spacer region flanked by target-specific sequences. Genomic DNA is digested, and the target DNA is PCR-amplified and sequenced. (c) Hybridisation enrichment methods work on the principle of selection using probes complementary to DNA in the genomic area of interest either by surface microarray or in solution with labelled beads.45 Reprinted with permission from Mamanova et al.45