Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants.

ABSTRACT:

Motivation

Deciphering the functional roles of cis-regulatory variants is a critical challenge in genome analysis and interpretation. It has been hypothesized that altered transcription factor (TF) binding events are a central mechanism by which cis-regulatory variants impact gene expression levels. However, we lack a computational framework to understand and quantify such mechanistic contributions.

Results

We present TF2Exp, a gene-based framework to predict the impact of altered TF-binding events on gene expression levels. Using data from lymphoblastoid cell lines, TF2Exp models were applied successfully to predict the expression levels of 3196 genes. Alterations within DNase I hypersensitive, CTCF-bound and tissue-specific TF-bound regions were the greatest contributing f

SUBMITTER: Shi W 

PROVIDER: S-EPMC6662294 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature