Article
Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes.
Human molecular genetics - 1 Mar 2015
Wood Andrew R, Tuke Marcus A, Nalls Mike, Hernandez Dena, Gibbs J Raphael, Lin Haoxiang, Xu Christopher S, Li Qibin, Shen Juan, Jun Goo, Almeida Marcio, Tanaka Toshiko, Perry John R B, Gaulton Kyle, Rivas Manny, Pearson Richard, Curran Joanne E, Johnson Matthew P, Göring Harald H H, Duggirala Ravindranath, Blangero John, Mccarthy Mark I, Bandinelli Stefania, Murray Anna, Weedon Michael N, Singleton Andrew, Melzer David, Ferrucci Luigi, Frayling Timothy M
Abstract excerpt
Initial results from sequencing studies suggest that there are relatively few low-frequency (<5%) variants associated with large effects on common phenotypes. We performed low-pass whole-genome sequencing in 680 individuals from the InCHIANTI study to test two primary hypotheses: (i) that sequencing would detect single low-frequency-large effect variants that explained similar amounts of phenotypic variance as...
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