Abstract
Human diseases account for complex traits that usually exhibit markedly diverse clinical manifestations coming from a series of pathogenic processes that shape heterogeneous phenotypes. Considering that correlation does not imply causation as well as population differences and/or inter-individual variability, disease-specific signatures are becoming critical for biomarker discovery. Untargeted metabolomics is deemed to be a powerful approach to delineate molecular pathways of prime interest. Metabotypes capture the interplay of genomics and environmental influences per se. Untargeted metabolomics share the charm of being not only hypothesis-driven but also hypothesis-generating. Notwithstanding, the applicability of untargeted metabolomics toward clinically relevant outcomes depend on wet- and dry-lab procedures in the context of elegant study designs with clear rationale. As ideal may be far from feasible, herein we provide recommendations to combat sample mishandling that adversely affect data outcomes and if so, deal with imbalanced datasets toward data integrity.
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Chalikiopoulou, C., Gómez-Tamayo, J.C., Katsila, T. (2023). Untargeted Metabolomics for Disease-Specific Signatures. In: González-Domínguez, R. (eds) Mass Spectrometry for Metabolomics. Methods in Molecular Biology, vol 2571. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2699-3_7
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DOI: https://doi.org/10.1007/978-1-0716-2699-3_7
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