Article
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Nature genetics - 1 Apr 2017
Long Tao, Hicks Michael, Yu Hung-Chun, Biggs William H, Kirkness Ewen F, Menni Cristina, Zierer Jonas, Small Kerrin S, Mangino Massimo, Messier Helen, Brewerton Suzanne, Turpaz Yaron, Perkins Brad A, Evans Anne M, Miller Luke A D, Guo Lining, Caskey C Thomas, Schork Nicholas J, Garner Chad, Spector Tim D, Venter J Craig, Telenti Amalio
Abstract excerpt
Genetic factors modifying the blood metabolome have been investigated through genome-wide association studies (GWAS) of common genetic variants and through exome sequencing. We conducted a whole-genome sequencing study of common, low-frequency and rare variants to associate genetic variations with blood metabolite levels using comprehensive metabolite profiling in 1,960 adults. We focused the analysis on 644...
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