date: 2017-07-17
created with pathoscore version: 0.1.1
pathoscore evaluates variant pathogenicity tools and scores.

In this evaluation, there were 14991 pathogenic and 3710 benign variants that could be scored.

Distribution of variants scored

Receiver Operating Characteristic Curve

True positive rate at FPR == 10

Precision-Recall Curve

Step Plot of Scores

invocation: pathoscore.py evaluate -s pLI -s mpc -s exac_ccr -s cadd -i mpc_regions -s fitcons -s gerp -s pp2hdiv -s pp2hvar clinvar-pathogenic.all-anno.vcf.gz clinvar-benign.all-anno.vcf.gz --prefix /uufs/chpc.utah.edu/common/home/u6000771/public_html/pathoscore/testing/clinvar-functional-ad --functional --include _include