Enrichment analyses of proximity to gene members of a catalogue of gene sets (Gene Ontology (GO), Human Phenotype Ontology (HPO)) have been performed using the GREAT tool54. In particular, the GREAT web API was used to automatically submit region descriptions and retrieve results for subsequent parsing. We restricted ourselves to interpretation of results with an enrichment ratio of at least 2, and multiple hypothesis testing corrected, p-values < 0.01 for both the binomial and the hypergeometric distribution based tests.
