Case study. (A) HPO encoded phenotype of a case in the “suspected” category, visualized as a graph using the hpoPlot package. Note that “abnormality of leukocytes” is also an “abnormality of the immune system” (not shown). (B) The ratio between observed and expected read depth over the PLAU gene for the case (red) and superimposed over the 95% confidence interval (gray shaded area). In the lower panel, the central position of each exon of the PLAU gene is shown as a vertical bar and the gene coordinates are provided on the horizontal axis. The data indicate that the case carries an additional copy of the PLAU gene (Bayes factor = 145), which is compatible with a diagnosis of suspected Québec platelet syndrome.