Fig. 1: Gene Discovery Pipeline workflow used in this study and comparison of E14.5 mouse RNA expression rank score between genes on the “Familial non-syndromic congenital heart disease” gene panel and the full set of reported genes from the mouse genome.

a Gene discovery pipeline schematic showing the process of de novo variant filtering pipelines. If filtered variants occurred within OMIM morbid genes that were compatible with the participant phenotype, then they were reported to the recruiting clinical team. If filtered variants occurred in OMIM non-morbid genes, they formed part of the candidate gene dataset. Numbers given indicate the number of participants or variants remaining after each stage of filtering. b Percentile rank expression from mouse E14.5 developing heart. A subset of genes known to be causative of CHD, which were “green genes” (i.e. validated genes included on the panel) from the “Familial non-syndromic congenital heart disease” gene panel, were shown to have a significantly higher mean expression percentile rank score (mean 71.79, SD 30.9), than the full set of reported genes from the mouse genome (mean 49.53, SD 29.6) (t(17702, total number of genes) = 3.602, unpaired t-test p < 0.01). Box plots are shown; horizontal lines = first quartile, median and third quartile values, crosses = mean values and error bars = maximum and minimum values.