date: 2018-09-13
created with pathoscore version: 0.1.3

pathoscore evaluates pathogenicity tools and scores.

In this evaluation, there were 24554 pathogenic (46.5% indels) and 4689 benign (6.1% indels) variants that could be scored.

Distribution of variants scored

Receiver Operating Characteristic Curves

Precision-Recall Curves

Youden's J Statistic

Youden's J Distribution

Distribution of Scores for Pathogenic and Benign

Clinical Utility for Genes of Interest


/uufs/ evaluate --functional --prefix /uufs/ -s CCR -s CADD -s GERP -s MPC -s REVEL -i MTR -s pLI --suffix pdf pathogenic.combine.vcf.gz benign.combine.vcf.gz