Fig. 3: Effect size on metabolite levels (Y-axis) versus rare variant carrier status (X-axis).
Argininosuccinate levels are displayed by ASL rare variant carrier status (a) and levels of phenylalanine, tyrosine and their ratio for PAH rare variant carrier status (b). The Y axis represents metabolite levels after inverse normal transformation (INV), which allows for comparisons across metabolites. Units correspond to standard deviations. The symbol color indicates observed rare variant carrier status, and symbol shape variant consequence. The box ranges from the 25th to the 75th percentile of transformed metabolite levels, the median is indicated by a line, and whiskers end at the last observed value within 1.5*(interquartile range) away from the box. Sample sizes: n = 4863 individuals for argininosuccinate; n = 4839 individuals for phenylalanine, phenylalanine/tyrosine ratio and tyrosine.
