Exploring the effects of genetic variation on gene regulation in cancer in the context of 3D genome structure.

ABSTRACT:

Background

Numerous genome-wide association studies (GWAS) conducted to date revealed genetic variants associated with various diseases, including breast and prostate cancers. Despite the availability of these large-scale data, relatively few variants have been functionally characterized, mainly because the majority of single-nucleotide polymorphisms (SNPs) map to the non-coding regions of the human genome. The functional characterization of these non-coding variants and the identification of their target genes remain challenging.

Results

In this communication, we explore the potential functional mechanisms of non-coding SNPs by integrating GWAS with the high-resolution chromosome conformation capture (Hi-C) data for breast and prostate cancers. We show that more genetic var

SUBMITTER: Osman N 

PROVIDER: S-EPMC8851830 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature