Table 1.

Overview of RegulationSpotter core features and comparable tools. (1) Helpful in this context means any effort to prepare and present the results in a structured or graphical way that helps the user to understand the numerous annotations. (2) This means that all types of variants (known, unknown, SNVs, short InDels) found by Whole Genome Sequencing can be submitted and analysed in a single run and without the need for prior processing of the format or the file size. (3) This refers to the possibility to restrict the analysis to variants residing in candidate genes or their associated regulatory elements such as promoters and distant enhancers or silencers. (✓) CADD scores are only available for a limited selection of short InDels