Metabolome, the end product of the genome, can be studied through identification and quantification of small molecules. The global metabolome influences the individual phenotype through clinical and environmental interventions. (1, 2) Metabolomics has become an integral part of clinical research and allowed for another dimension of better understanding of disease pathophysiology. The clinical biochemistry laboratory routine workload (>95%) is based on small molecular identification, which can potentially be analyzed and discovered through metabolomics. (3, 4) However, multiple challenges in clinical metabolomics impact the entire workflow and data quality, thus the biological interpretation needs to be standardized for a reproducible outcome. The existing Mass spectrometry-based Newborn Screening assay has false discovery rate (FDR) that can be minimized once linearly integrated with other markers.
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