We have shown the utility of RegulomeDB by providing two types of examples of common experiments using variant information. First, we demonstrate that personal genomes can be annotated with SNVs of functional consequence and allow for individual genomic interpretation. This example highlights a potential damaging allele that might merit further investigation in the individual. In many cases, the interpretation needs to be combined with damaging alleles in coding sequences. Given the large number of personal genomes sequences that are expected in the foreseeable future, a comprehensive analysis of both coding and regulatory information will be essential for clinical and phenotypic genome interpretation (Chen et al. 2012). Second, we showed that a GWAS study can derive a valid hypothesis in a straightforward manner. We compare a literature case and show that RegulomeDB rapidly generates the same result and suggests the specific cause of the decrease of binding of a transcription factor.
