Fig. 2

GenePy profiles observed for all genes across the whole cohort for all sixteen deleteriousness metrics. Uncorrected GenePy scores (upper panel) exhibit characteristic spikes reflecting gene scores strongly influenced by the effect of: single highly deleterious (D = 1) common homozygous variants (red) or; single highly deleterious very rare/novel variants (MAF = 0.00001) (blue). GenePy_cgl score profiles (lower panel) do not display these spikes. Invariant genes conferring a GenePy score < 0.01 are overrepresented and not shown here by commencing the x-axis with the 0.01–0.02 bin. All sixteen versions of the GenePy score exhibit long tails in the GenePy score distribution truncated here at a score of six