Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests

Genetics in Medicine（2023）

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摘要

Metabolomics-based gene function tests provide additional value in the diagnostic trajectory of patients with suspected IMD by enhancing and accelerating diagnostic success.

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关键词

Exome sequencing,Functional test,Genome sequencing,Inborn errors of metabolism,Metabolomics

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