Fig. 1.

a Representative subset of identified point mutations in cfmDNA and paternal DNA. In total 613 (shown 259) targeted causative mutations were detected, corresponding to 21 (shown 15/21) monogenic diseases. Color dots represent the Minor Allele Frequency (MAF) at a targeted mutation as per the legend. Grey dots denote a “negative” call (wild type). b Sanger sequencing confirmations of wild-type (I) and parental samples (II and III). A homozygous wild-type sample is shown as normal. Both parents were identified as carriers of a C > T (c.93-21C > T) transition in intron 1 of the HBB gene. In the figure cfmDNA implies cell-free maternal DNA