Figure 4.

Mosaic Variant Allele Fraction Distributions

For all plots, all PMMs from the 5%-45× high-confidence call set were used.

(A) Distribution of allele fractions for variants in probands combined (quad + trio families).

(B) Distribution of allele fractions for variants in siblings.

(C) Distribution of allele fractions for germline variants in children that were transmitted from mosaic parents.

(D and E) Distribution of allele fractions for variants in mothers that were not (D) and were (E) transmitted to children.

(F and G) Distribution of allele fractions for variants in fathers that were not (F) and were (G) transmitted to children.

(H) Combined data plotted as kernel density curves. Parental transmitted are significantly shifted toward a higher allele fraction than nontransmitted or child mosaic variants. Children have a significantly different distribution than parental nontransmitted. Significance determined using a two-sided Wilcoxon rank sum test. ^∗FDR < 0.05 using the Benjamini-Yekutieli approach.