Disease-Specific Integration of Omics Data to Guide Functional Validation of Genetic Associations.

Abstract excerpt

Unbiased genetic association studies, including genome-wide association and whole-genome sequencing studies, have uncovered many novel disease-associated variants. Relatively few of these associated regions, however, have led to insights that are biologically mechanistic or clinically actionable due in part to the difficulty in designing appropriate functional validation studies to understand how variants...

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