Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals

Figure 1

Comparison between Syntool score and ExAC gene constraint synonymous score. (a) Distribution of the HGMD disease causing synonymous mutation and ClinVar pathogenic mutations in the intolerant score percentile. The lower the variation score percentiles, the more intolerant the regions/genes to variation. (b) ROC curves of Syntool score and ExAC gene constraint synonymous score to discriminate the genomics region/gene whether there is synonymous disease causing mutation. The lower the variation score percentiles, the more intolerant the regions/genes to variation.

(a)

(b)