Fig. 2

Predicted genetic functional effect scores in the UKBB cohort. a The distribution of the number of non-synonymous variants per gene that affect its coding sequence (CDS), according to the (imputed) genetic data of the UKBB. Presented in a log scale. b The distribution of the ~ 640K variant effect scores. Each score is a number between 0 (complete loss of function) and 1 (no damage to the protein product). c, d Aggregated gene scores according to the dominant (c) and recessive (d) inheritance models. Top panels: the mean (solid line) and standard deviation (shaded area) of the effect scores of the 18,053 analyzed protein-coding genes across the entire UKBB cohort (sorted by the mean score). Bottom panel: z values of the gene effect scores across 10 randomly selected samples (of the entire ~ 500K samples in the UKBB). Each of the 10 samples is shown in a distinct color