Figure 2.

Effect most prevalent in disease mutants For each set we show the fraction of mutants with predicted effect (SNAP, SIFT: functional effect, PhD-SNP: disease). Disease predictions taken from PhD-SNP (light blue bars) confirm the major observation found in functional predictions (black+dark blue bars): observed effect mutants have high impact on disease. More than 64% of these are predicted to be disease-causing while only 27% of mutations of unknown disease relation are predicted to cause disease.

Schaefer et al. BMC Genomics 2012 13(Suppl 4):S11   doi:10.1186/1471-2164-13-S4-S11