Leveraging epigenomes and three-dimensional genome organization for interpreting regulatory variation.

ABSTRACT: Understanding the impact of regulatory variants on complex phenotypes is a significant challenge because the genes and pathways that are targeted by such variants and the cell type context in which regulatory variants operate are typically unknown. Cell-type-specific long-range regulatory interactions that occur between a distal regulatory sequence and a gene offer a powerful framework for examining the impact of regulatory variants on complex phenotypes. However, high-resolution maps of such long-range interactions are available only for a handful of cell types. Furthermore, identifying specific gene subnetworks or pathways that are targeted by a set of variants is a significant challenge. We have developed L-HiC-Reg, a Random Forests regression method to predict high-resolution contact c

SUBMITTER: Baur B 

PROVIDER: S-EPMC10358954 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature