biostudies-literatureRosean SAlbert Einstein College of Medicine Medical Scientist Training ProgramScience Foundation IrelandNIA NIH HHSNIH Office of the DirectorNIMH NIH HHSNIH Ruth L. Kirschstein Predoctoral Individual National Research Service AwardAlbert Einstein College of Medicine, Systems and Computational Biology DepartmentNational Institutes of HealthNIH HHSNIGMS NIH HHS179https://www.ebi.ac.uk/biostudies/studies/S-EPMC11075237biostudies-literatureUnknown25(1)<h4>Background</h4>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.<h4>Results</h4>In this work, we present Regulatory Landscape Enrichment Analysis (RLEA) by GaiaAsBMC bioinformaticsRegulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization.PMC1107523716/IA/4612T32 GM149364R01AG057422OT2OD031919T32-GM14936418/CRT/6214R01 AG0574221F31MH131380-01F31 MH131380OT2 OD031919Rosean SSosa EAO'Shea DSeoighe CRaj SMGreally JMfalseRegulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization.<h4>Background</h4>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.<h4>Results</h4>In this work, we present Regulatory Landscape Enrichment Analysis (RLEA) by GaiaAs2024-01-01T00:00:00Z2024 May2026-03-31T11:19:25.485Z2025-08-30T03:09:59.205ZS-EPMC110752373871491310.1186/s12859-024-05794-7