echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline.

Abstract

echolocatoR integrates a diverse suite of statistical and functional fine-mapping tools to identify, test enrichment in, and visualize high-confidence causal consensus variants in any phenotype. It requires minimal input from users (a summary statistics file), can be run in a single R function, and provides extensive access to relevant datasets (e.g. reference linkage disequilibrium panels, quantitative trait loci, genome-wide annotations, cell-type-specific epigenomics), thereby enabling rapid, robust and scalable end-to-end fine-mapping investigations. echolocatoR is an open-source R package available through GitHub under the GNU General Public License (Version 3) license: https://github.com/RajLabMSSM/echolocatoR. Supplementary data are available at Bioinformatics online.