Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization.

ABSTRACT:

Background

As genomic studies continue to implicate non-coding sequences in disease, testing the roles of these variants requires insights into the cell type(s) in which they are likely to be mediating their effects. Prior methods for associating non-coding variants with cell types have involved approaches using linkage disequilibrium or ontological associations, incurring significant processing requirements. GaiaAssociation is a freely available, open-source software that enables thousands of genomic loci implicated in a phenotype to be tested for enrichment at regulatory loci of multiple cell types in minutes, permitting insights into the cell type(s) mediating the studied phenotype.

Results

In this work, we present Regulatory Landscape Enrichment Analysis (RLEA) by GaiaAs

SUBMITTER: Rosean S 

PROVIDER: S-EPMC11075237 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature