MendelVar produces a figure summarizing the enrichment testing results from each ontology. The figure depicts top 50 most significant terms in each ontology (y axis), sorted first by empirical p-value followed by the number of genes overlapping the ontology term in the tested genomic intervals in case of ties (also shown independently on the x axis). The size of each data point represents ratio of gene overlap, i.e. number of genes found in the tested genomic intervals divided by all Mendelian genes annotated with that ontology term available in the genome. Each data point is coloured according to empirical p-value for enrichment significance.

Disease Ontology sample figure

Human Phenotype Ontology sample figure