Figure 1

<p>Schematic overviews of molecular inversion probe technology. <b>A</b>) Synthetic oligonucleotide containing following four regions; i) H1 and H2: homology regions comprised of unique continuous 40–50 base pair fragments for target recognition ii) BARCODE: molecular barcode comprised of a 20 base pair DNA tag for target identification iii) U1 and U2: universal primer regions for inverted probe amplification, and iv) R: restriction site for probe linearization. <b>B</b>) Upon target recognition, a DNA polymerase fills the missing gap in between the juxtaposition of the probes' flanking ends, and through the activity of a DNA ligase the probe is circularized. In all cases the missing nucleotide is a “G”. <b>C</b>) Circular DNA enrichment through DNA degradation by enzymes Exonuclease I and III. <b>D</b>) Probe linearization restriction site cleavage. <b>E</b>) All reacted and inverted probes are amplified with universal primers, of which one is biotinylated for subsequent amplicon validation.