Figure 1 illustrates the assessment process. We note that in the case of SNPs within regulatory regions, for instance, ‘transcription factor binding site’ or ‘exonic splicing regulatory regions’ (as shown in the two middle boxes in Figure 1), we additionally examine whether the region is conserved across multiple species (chimp/dog/mouse/rat/chicken/zebrafish/fugu) to determine whether the SNP is functional. This strategy is mainly used because there is a high rate of false positive findings by in silico prediction tools due to the short length of such sequences (typically 6–8-mer) (12). The additional information about conserved regions across multiple species is thus used as a way to filter out possible false-positive predictions (2,11–14).
