Maybe it's not a specific bioinformatics issue but we have problem with creating assay for CNV analysis on Digital PCR QuantStudio (Thermo Fisher) for two different projects:
1) CNV analysis of 13, 18, 21 and Y of fetus from amniotic fluids
2) CNV analysis of mitochondrial genome from blood
Maybe someone have an experience with this technology or with mitochondrial DNA CNV analysis.
We will be very appreciate for any help