Direct identification of hundreds of expression-modulating variants using a multiplexed reporter assay

ABSTRACT: Although genetic studies have identified many hundreds of loci associated with human traits and diseases, pinpointing the causal alleles remains difficult, particularly for non-coding variants. To address this challenge, we have enhanced the sensitivity and reproducibility of the massively parallel reporter assay (MPRA), adapting it to identify variants that directly modulate gene expression. We then applied it to over 29,000 single nucleotide and insertion/deletion polymorphisms from 3,965 cis-expression quantitative trait loci (eQTL). We demonstrate strong correlation between our MPRA approach and existing measures of regulatory function, and determine an approximate sensitivity of ~20% with a positive predictive value of 60-65% to detect an eQTL causal allele. We identify 842 variants s

ORGANISM(S): synthetic construct

SUBMITTER: Ryan Tewhey 

PROVIDER: E-GEOD-75661 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress