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bioRxiv · 10.1101/2020.10.22.351221

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

Schilder, B. M.·Humphrey, J.·Raj, T.
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Abstract

SummaryecholocatoR 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

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Schilder, B. M., Humphrey, J., Raj, T.. 2020-10-23. echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline. https://doi.org/10.1101/2020.10.22.351221

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