Screening for functional regulatory variants in open chromatin using GenIE-ATAC.

ABSTRACT: Understanding the effects of genetic variation in gene regulatory elements is crucial to interpreting genome function. This is particularly pertinent for the hundreds of thousands of disease-associated variants identified by GWAS, which frequently sit within gene regulatory elements but whose functional effects are often unknown. Current methods are limited in their scalability and ability to assay regulatory variants in their endogenous context, independently of other tightly linked variants. Here, we present a new medium-throughput screening system: genome engineering based interrogation of enhancers assay for transposase accessible chromatin (GenIE-ATAC), that measures the effect of individual variants on chromatin accessibility in their endogenous genomic and chromatin context. We empl

SUBMITTER: Cooper S 

PROVIDER: S-EPMC10287956 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature