and SIFT (39), which deal exclusively with non-synonymous SNPs, have found evidence of prediction using information on disease-related variants from the UniProt database (60) for Mendelian disorders flagged by terms such as ‘lethal’ and ‘complete loss of function’ (PolyPhen is incorporated into SPOT). FastSNP and GenePipe, which can be used for arbitrary SNPs, each tested the predictive properties based on a single disease study. A feature of some of these other tools that may be significantly appealing to investigators when compared to SPOT is the fact that they offer substantially more biological information, as shown in Tables 1 and 2. However, with the exception of GenePipe, due to limited input features these tools appear to be more geared towards assessing the biological plausibility of a small number of SNPs and perhaps their LD proxies (although these would have to be obtained from a different source, such as the LD web tool SNAP (61), and submitted manually). This could be applied to a small number of ‘top hits’ from a GWAS, as opposed to incorporating biological information into a full-scale GWAS for the purpose of prioritizing a large number of replication experiments, which is the purpose of SPOT. We are currently
