BioinformaticsbioRxivPreprint
Pleiotropic Variability Score: A Genome Interpretation Metric to Quantify Phenomic Associations of Genomic Variants
Khader Shameer, Benjamin Scott Glicksberg, Marcus A. Badgeley…·Joel T. Dudley
The paper introduces the Pleiotropic Variability Score (PVS) to quantify the phenomic associations of genomic variants using semantic reasoning and validates it with electronic health records.
3 citations