Bayesian estimation of genetic regulatory effects in high-throughput reporter assays.

ABSTRACT:

Motivation

High-throughput reporter assays dramatically improve our ability to assign function to noncoding genetic variants, by measuring allelic effects on gene expression in the controlled setting of a reporter gene. Unlike genetic association tests, such assays are not confounded by linkage disequilibrium when loci are independently assayed. These methods can thus improve the identification of causal disease mutations. While work continues on improving experimental aspects of these assays, less effort has gone into developing methods for assessing the statistical significance of assay results, particularly in the case of rare variants captured from patient DNA.

Results

We describe a Bayesian hierarchical model, called Bayesian Inference of Regulatory Differences, which i

SUBMITTER: Majoros WH 

PROVIDER: S-EPMC7999138 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature