echolocatoR: Automated Genomic Fine-Mapping

Automated statistical and functional fine-mapping with extensive access to genome-wide datasets.

Automated statistical and functional fine-mapping with extensive access to genome-wide datasets.

Details

Fine-mapping methods are a powerful means of identifying causal variants underlying a given phenotype, but are underutilized due to the technical challenges of implementation. echolocatoR is an R package that automates end-to-end genomics fine-mapping, annotation, and plotting in order to identify the most probable causal variants associated with a given phenotype.

It requires minimal input from users (a GWAS or QTL summary statistics file), and includes a suite of statistical and functional fine-mapping tools. It also includes extensive access to datasets (linkage disequilibrium panels, epigenomic and genome-wide annotations, QTL).

The elimination of data gathering and preprocessing steps enables rapid fine-mapping of many loci in any phenotype, complete with locus-specific publication-ready figure generation. All results are merged into a single per-SNP summary file for additional downstream analysis and results sharing. Therefore echolocatoR drastically reduces the barriers to identifying causal variants by making the entire fine-mapping pipeline rapid, robust and scalable.

See also

Useful links:

• https://github.com/RajLabMSSM/echolocatoR

• Report bugs at https://github.com/RajLabMSSM/echolocatoR/issues

Useful links:

• https://github.com/RajLabMSSM/echolocatoR

• Report bugs at https://github.com/RajLabMSSM/echolocatoR/issues

Author

Maintainer: Brian Schilder brian_schilder@alumni.brown.edu (ORCID)

Authors:

• Jack Humphrey Jack.Humphrey@mssm.edu (ORCID)

• Towfique Raj towfique.raj@mssm.edu (ORCID)