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quinlan-lab / pathoscore

pathoscore evaluates variant pathogenicity tools and scores.
MIT License
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removed erroneous metrics, added precomputed metric scores for truth sets, MetaSVM #48

Closed jimhavrilla closed 6 years ago

jimhavrilla commented 6 years ago

LINSIGHT had few variants, was not built correctly SIFT did not actually make without an error PolyPhen2 had multiple scores for the same alleles CADD needed to score INDELs for ClinVar and Samocha sets MetaSVM was not yet added