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

Abstract

AbstractSummaryecholocatoR integrates a diverse suite of statistical and functional fine-mapping tools in order 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 (LD) panels, quantitative trait loci (QTL) datasets, genome-wide annotations, cell type-specific epigenomics, thereby enabling rapid, robust and scalable end-to-end fine-mapping investigations.Availability and implementationecholocatoR is an open-source R package available through GitHub under the MIT license: https://github.com/RajLabMSSM/echolocatoR