Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

Figure 6

Performance of a combination of the splice site programs. Prediction programmes were used with the following cut-off threshold for % score change: HSF, 2%; MES, 10%; NNSplice, 5%; and ASSP, 10%. When two programmes were used, variants were considered positive if one or more of the programmes predicted a reduction in the splice site score in excess of the cut-off value; when three programmes were used, variants were considered positive if two or more programmes predicted a reduction in the splice site score in excess of the cut-off values.