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

By Brian M. Schilder, Jack Humphrey, Towfique Raj

Posted 23 Oct 2020
bioRxiv DOI: 10.1101/2020.10.22.351221

echolocatoR 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. ### Competing Interest Statement The authors have declared no competing interest.

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