Fig. 4: ART individuals have a higher incidence of de novo non-synonymous mtDNA variants than their spontaneously conceived peers.

a Overview of the transmitted heteroplasmic variants identified in the mother-child pairs, categorized according to mode of conception and labelled according to their location in the mtDNA genome. The size of the bubble is proportional to the heteroplasmic load in the mother and her child. No statistically significant differences between SC and ART, two-sided Mann–Whitney U test. b Overview of de novo heteroplasmic variants identified in the mother-child pairs, categorized according to mode of conception and labelled according to their location in the mtDNA genome. The size of the bubble is proportional to the heteroplasmic load in the child. c Number of ART and SC mother-child pairs showing de novo non-synonymous and rRNA variants. ART children often show more de novo protein coding variants than SC children (two-sided Fisher’s exact test, *p = 0.01). d Sum of the heteroplasmic loads of the de novo variants in ART and SC individuals, categorized per region. Two-sided Mann–Whitney U test *p = 0.048, n ART = 67 individuals, n SC = 90 individuals. Horizontal bars represent the mean of the values in the scatter plot, each dot represents a sample. Source data are provided as a Source data file.