Data-driven projections of candidate enhancer-activating SNPs in immune regulation.

ABSTRACT:

Background

Millions of single nucleotide polymorphisms (SNPs) have been identified in humans, but the functionality of almost all SNPs remains unclear. While current research focuses primarily on SNPs altering one amino acid to another one, the majority of SNPs are located in intergenic spaces. Some of these SNPs can be found in candidate cis-regulatory elements (CREs) such as promoters and enhancers, potentially destroying or creating DNA-binding motifs for transcription factors (TFs) and, hence, deregulating the expression of nearby genes. These aspects are understudied due to the sheer number of SNPs and TF binding motifs, making it challenging to identify SNPs that yield phenotypic changes or altered gene expression.

Results

We developed a data-driven computational proto

SUBMITTER: Hoffmann M 

PROVIDER: S-EPMC11863423 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature