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. 2023 Jan 19;29(1):180–189. doi: 10.1038/s41591-022-02142-1

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Extended Data Fig. 9 — (a) ddPCR shows the PBX1 p.Arg107Trp variant in PED043 is present at different allelic ratios in paternal sperm (20.1%) compared to paternal blood (10.4%). The mother does not carry the variant and s and the proband is heterozygous. (b) ddPCR of the TUBA1A p.Arg64Trp variant in PED084 is present at an allelic ratio of 2.9% in paternal sperm and at 2.3% in paternal blood. The maternal sample is negative for the mutation, and the proband is heterozygous. Figures are generated by the original Quantasoft^TM software for ddPCR analysis (BioRad). The concentration (copies/µl) of the WT and the Mutant allele are used to calculate the fractional abundance (mean with 95% CI).