Fig. 2

Example of evaluation of copy number by ddPCR. Panel a shows an annotated example of FACS-like plot obtained with the QuantaSoft software, version 1.2.10.0 (Bio-Rad, CA, USA) taken from a CNV2 copy counting ddPCR experiment. Panel b and c show typical results obtained from quantifying Chr 8 in a euploid and a trisomic sample, respectively. Panel d shows copy numbers as calculated and presented in the CNV option obtained with known euploid (Normal) and trisomic for Chr 1, 8 and 11 (Trisomic) samples as external calibrators. A new sample of unknown quality is shown to be injectable. Vertical bars are Standard Errors. Panel e presents the distribution of the marker genes and their mouse chromosomal location and the assays that were employed in this study (* and ** show the position on Chr 8 of Tlr3 and Gse1, respectively)