Figure 2

Representation of the population and study sets in the enrichment profiling analysis. The two sets of dots represent the genome of two patients, from the same group (e.g. with SCD). The smaller, yellow set of dots, corresponds to the genes mutated in the patient; the larger, white set of dots, corresponds to the entire genome of the patient: genes not mutated (outside the yellow set) and genes mutated. In these sets of genes, blue dots represent genes annotated with a term of interest (t); gray dots represent genes not annotated with t. In the profiling analysis, the study set is the union of the genes mutated in all the patients; the population set is the union of the genome of all the patients. The annotation frequency is then calculated by counting the total number of genes annotated with the term in the study set (study frequency) and in the population set (population frequency).