Methods of identifying genetically-anchored molecular signatures for disease and treatments thereof

Abstract

The present invention provides a method for obtaining genetically-anchored molecular signatures that are molecular signatures linked to genetic risk variants and that define mechanistic disease pathways in order to facilitate improved disease sub-classification, develop of novel rational therapeutics, and implement targeted prevention practices. The signatures can be obtained using polygenic risk scores and gene expression data, such as partitioned polygenic risk scores. In certain embodiments, the method further comprises identifying one or more key regulatory features of the genetically-anchored molecular signature by matching the genetically-anchored molecular signature with one or more perturbation molecular signatures from a perturbation data set using similarity scoring

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