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Updated: Jun 30, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Human metabolic phenotyping and metabolome wide association studies
1Division of Surgery, Oncology, Reproductive Biology and Anaesthetics (SORA), Faculty of Medicine, Sir Alexander Fleming Building, South Kensington, SW7 2AZ London, UK. Elaine.holmes@imperial.ac.uk
Abstract:
Metabolic phenotyping in large-scale population studies can yield crucial information regarding the impact and interaction of genetic and environmental factors with regard to the prevalence and risk of chronic diseases. Spectroscopic technologies such as nuclear magnetic resonance (NMR) spectroscopy and mass spectrometry (MS) can be used to generate multi-parameter profiles of biological samples and together with automated sample delivery and mathematical modelling systems, can be used as a high throughput screening tool. The adaptation of these metabolic profiling tools from pre-clinical studies in animal models to population studies in man is explored and an overview of the current and future roles of metabolic phenotyping is described, including the idea of "Metabolome Wide Association Screening" focussing on key disease areas such as cardiovascular disease and metabolic syndrome, cancers and neurodegeneration.
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