Overview of the performance of PVP, CADD, DANN, GWAVA and Exomiser in prioritizing causative variants in WGS data.

We prioritize all variants in a VCF file resulting from WGS using the same models. Analysis is separated reflecting the performance of the various tools identifying exonic and non-exonic variants. For CADD, DANN, and GWAVA, we report only analysis results for which a prediction score is returned; consequently, total numbers are less than the total of 11,251 causative variants.