echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline.
Bioinformatics
; 38(2): 536-539, 2022 01 03.
Article
em En
| MEDLINE
| ID: mdl-34529038
ABSTRACT
SUMMARY:
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. AVAILABILITY AND IMPLEMENTATION echolocatoR is an open-source R package available through GitHub under the GNU General Public License (Version 3) license https//github.com/RajLabMSSM/echolocatoR. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
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MEDLINE
Assunto principal:
Software
/
Genômica
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article