Complementarity between sequence-based and gene-based pathogenicity scores illustrated for OMIM genes with both pathogenic and non-pathogenic/non-annotated stop-gain variants.

<p>Shown are the sequence-based score (x-axis) for 273 stop-gain variants reported by the ESP and 1000 Genomes datasets in 75 OMIM genes carrying both OMIM pathogenic-variants (grey dots) and a non-pathogenic/non-annotated variants (orange dots). Genes are displayed by blocks from 1 to 9 (y-axis on the right) corresponding to deciles of the gene-based MacArthur 2012 rank percentile (e.g. 1: < = 10; 2: (10,20], etc). Grey triangles beside the panels represent the direction of increasing pathogenicity for the corresponding scores.