Untargeted metabolome quantitative trait locus mapping associates variation in urine glycerate to mutant glycerate kinase.

Journal article

With successes of genome-wide association studies, molecular phenotyping systems are developed to identify genetically determined disease-associated biomarkers. Genetic studies of the human metabolome are emerging but exclusively apply targeted approaches, which restricts the analysis to a limited number of well-known metabolites. We have developed novel technical and statistical methods for systematic and automated quantification of untargeted NMR spectral data designed to perform robust and...

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Authors: Cazier, J; Kaisaki, P; Argoud, K; Blaise, B; Veselkov, K

• Publication status: Published
• Journal: Journal of proteome research
• Volume: 11
• Issue: 2
• Pages: 631-642
• Publication date: 2012-02-01
• DOI: 10.1021/pr200566t
• EISSN: 1535-3907
• ISSN: 1535-3893
• Language: English
• Keywords: Genomics; Nuclear Magnetic Resonance, Biomolecular; Metabolomics; Glyceric Acids; Mice; Animals; Mice, Inbred BALB C; Male; Computer Simulation; Quantitative Trait Loci; Phosphotransferases (Alcohol Group Acceptor); Metabolome; Lod Score; Chromosome Mapping; Analysis of Variance