Shin S, et. al, An Atlas of Genetic Influences on Human Blood Metabolites. Nature Genetics, June 2014. 46(5)


Determining gene function and ascertaining which allelic differences are important
are great challenges in genomic research. Consequently, investigators have been turning to metabolomics as a tool to decipher the allelic differences that matter, their function, and their mechanistic role in complex traits. Building on earlier work combining genomics and metabolomics, investigators unveiled the most comprehensive metabolomics survey of human metabolism conducted to date. In this work, over 500 blood metabolites were measured across almost 8,000 subjects revealing hundreds of exceptionally strong metabolite associations to genetic variants. These associations provide a system-wide atlas of the effective activity of human genes and allelic differences, and they identify potential new opportunities for drug development and disease understanding. This work extends on a growing recognition of a fundamentally new way to study human genomics (with metabolomics) to reveal opportunities for drug development, an enhanced understanding of disease, and new biomarkers.

Metabolon results led to:

  • Exceptionally strong metabolite associations with genetic variants to reveal new insights into gene function and traits of biomedical interest
  • A clear demonstration of a fundamentally new way to strengthen findings in genomics studies



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