Figure 8.

Examples of copy number variant analysis by rapid heme panel. Log2 ratio plots of normalized read count across the 1300 amplicons in rapid heme panel sorted by chromosomal coordinates. One dot represents one amplicon. Different chromosomes are represented by different colors. The line represents 30-amplicon sliding average. The y axis indicates log2 ratio; x axis, chromosomes. A: A representative female sample with no gain or loss of genes identified. B: A sample from a female with loss of all amplicons on chromosome 7. C: A male sample with loss of all amplicons on chromosomes 7 and 20. D: A female sample with amplification of RUNX1 on chromosome 21 and gain of chromosome X.