4.7 Article

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

Journal

BIOINFORMATICS
Volume 38, Issue 2, Pages 536-539

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btab658

Keywords

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Funding

  1. Michael J. Fox Foundation [14899, 16743]
  2. US National Institutes of Health [NIH NIA R01-AG054005]
  3. UK Dementia Research Institute from UK DRI Ltd
  4. UK Medical Research Council
  5. Alzheimer's Society
  6. Alzheimer's Research UK

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echolocatoR integrates a diverse suite of statistical and functional fine-mapping tools to identify and verify high-confidence consensus variants in any phenotype quickly and accurately. It requires minimal input from users and utilizes a wide range of relevant datasets for comprehensive analysis.
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.

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