Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort

Christopher M. Vockley, Cong Guo, William H. Majoros, Michael Nodzenski, Denise M. Scholtens, M. Geoffrey Hayes, William L. Lowe, Timothy E. Reddy*

*Corresponding author for this work

Research output: Contribution to journalArticle

41 Scopus citations


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 measured the activity of more than 100 putative regulatory elements from 95 individuals in a single experiment. In agreement with previous reports, we found that 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 causal regulatory haplotypes that likely contribute to human phenotypes. Finally, we demonstrate the utility of the method to functionally fine map causal regulatory variants in regions of high linkage disequilibrium identified by expression quantitative trait loci (eQTL) analyses.

Original languageEnglish (US)
Pages (from-to)1206-1214
Number of pages9
JournalGenome Research
Issue number8
StatePublished - Aug 1 2015


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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