Massively parallel quantification of the regulatory effects of non-coding genetic variation [STARR-seq]

ABSTRACT: We report a novel high-throughput method to empirically quantify individual-specific regulatory element activity at the population scale. The approach combines targeted DNA capture with a high-throughput reporter-gene expression assay. As demonstration, we have measured the activity of more than 100 putative regulatory elements from 95 individuals in a single experiment. We found that, in agreement with previous reports, most genetic variants have weak effects on distal regulatory element activity. Because haplotypes are typically maintained within but not between assayed regulatory elements, the approach can be used to identify likely causal regulatory haplotypes that contribute to human phenotypes. Finally, we demonstrate the utility of the method to functionally fine map causal regulato

ORGANISM(S): Homo sapiens

SUBMITTER: Christopher Vockley 

PROVIDER: E-GEOD-68331 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress