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. 2022 May 22;45(4):663–681. doi: 10.1002/jimd.12507

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© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Added value of genomics and metabolomics data integration. Exome or genome sequencing (genomics) provides data on variants found in the DNA of a patient, whereas targeted or untargeted metabolomics provides data on aberrant metabolites. The integration of both data sets may aid in the interpretation of variants. For example, the metabolic profile of a patient showed an elevated level of substrate 1 and a decrease of products 1 and 2, implicating that there is a defect in pathway one that in turn points to gene A with a VUS. VUS, variant of unknown significance.