A Multiomic Network Approach to Uncover Disease Modifying Mechanisms of Inborn Errors of Metabolism.

Abstract excerpt

For many inborn errors of metabolism (IEM) the understanding of disease mechanisms remains limited, in part explaining their unmet medical needs. The expressivity of IEM disease phenotypes is affected by disease-modifying factors, including rare and common polygenic variation. We hypothesize that we can identify these modulating pathways using molecular signatures of IEM in combination with multiomic data and...

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