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The metabolome can be considered the final product of the complex interactions of the genome, transcriptome, proteome and the environment: these interactions can be regarded as a cascade linking the genome to the phenotype. For this reason the metabolite space represents an optimal level at which to analyse changes in biological systems with high sensitivity. The most common biological specimens used in metabolomics are serum/plasma and/or urines, because they can be collected with low invasiveness, and are rich in biological information at the systemic level. Mass spectrometry (MS) and proton nuclear magnetic resonance spectroscopy (1H-NMR) represent the techniques most commonly employed in metabolomics. The NMR spectrum of a body fluid can be also called metabolic profile, and constitutes a “fingerprint” of the NMR-detectable part of the whole metabolome. From mono-dimensional 1H-NMR spectra it is possible to extract a disease signature using multivariate statistical analysis and this feature could confer to metabolomics a key role in disease diagnosis, prognosis and for monitoring drug therapies. Finally, NMR is a relatively high-throughput methodology that requires minimal sample handling, allowing the simultaneous detection of a large number of different metabolites in a short time.

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