quinlan-lab / pathoscore

pathoscore evaluates variant pathogenicity tools and scores.
MIT License
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check total counts #17

Closed brentp closed 7 years ago

brentp commented 7 years ago

see: http://home.chpc.utah.edu/~u6000771/pathoscore/testing/samocha.overview.html where pLI has a higher bar for count of variants scored.

invocation: pathoscore.py evaluate -s cadd -s mpc -i mpc_regions -i blosum -s ccr_10_5 -s grantham -s pLI -s mis_badness -s combined spathogenic.vcf sbenign.vcf --prefix /uufs/chpc.utah.edu/common/home/u6000771/public_html/pathoscore/testing/samocha --functional