Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

Abstract

[...]the blood metabolite profile can act as a unique identifier of an individual through time1. [...]the quantitative nature and accurate measurement of metabolic traits have resulted in the successful mapping of loci and causal genes influencing a number of metabolites2-4. [...]analysis of promoter regions suggested that noncoding rare variants could modulate genes otherwise implicated in Mendelian disorders.