Open AccessecholocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline
Author(s) -
Brian M. Schilder,
Jack Humphrey,
Towfique Raj
Publication year - 2021
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btab658
Subject(s) - computer science , suite , mit license , source code , pipeline (software) , scalability , open source , data mining , license , computational biology , software , database , biology , programming language , operating system , archaeology , history
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.