Article
Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.
Cell stem cell - 6 Apr 2017
DeBoever Christopher, Li He, Jakubosky David, Benaglio Paola, Reyna Joaquin, Olson Katrina M, Huang Hui, Biggs William, Sandoval Efren, D'Antonio Matteo, Jepsen Kristen, Matsui Hiroko, Arias Angelo, Ren Bing, Nariai Naoki, Smith Erin N, D'Antonio-Chronowska Agnieszka, Farley Emma K, Frazer Kelly A
Abstract excerpt
In this study, we used whole-genome sequencing and gene expression profiling of 215 human induced pluripotent stem cell (iPSC) lines from different donors to identify genetic variants associated with RNA expression for 5,746 genes. We were able to predict causal variants for these expression quantitative trait loci (eQTLs) that disrupt transcription factor binding and validated a subset of them experimentally. We...
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