Article

Pleiotropic Variability Score: A Genome Interpretation Metric to Quantify Phenomic Associations of Genomic Variants

2021-07-19

Abstract excerpt

A more complete understanding of phenomic space is critical for elucidating genome-phenome relationships and for assessing disease risk from genome sequencing. To incorporate knowledge of how related a variant’s associations are, we developed a new genome interpretation metric called Pleiotropic Variability Score (PVS). PVS uses semantic reasoning to score the relatedness of a genetic variant’s associated phenotyp...

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Literature Corpus work: bf72893a-28ba-52a9-bdb7-be174719f754
DOI: 10.1101/2021.07.18.452819

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