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FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases

Authors :
Charles E. Breeze
Eric Haugen
María Gutierrez-Arcelus
Xiaozheng Yao
Andrew Teschendorff
Stephan Beck
Ian Dunham
John Stamatoyannopoulos
Nora Franceschini
Mitchell J. Machiela
Sonja I. Berndt
Source :
Genome Biology, Vol 25, Iss 1, Pp 1-13 (2024)
Publication Year :
2024
Publisher :
BMC, 2024.

Abstract

Abstract The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to identify potential biological mechanisms for further functional experiments can be challenging. To address this challenge, we developed FORGEdb ( https://forgedb.cancer.gov/ ; https://forge2.altiusinstitute.org/files/forgedb.html ; and https://doi.org/10.5281/zenodo.10067458 ), a standalone and web-based tool that integrates multiple datasets, delivering information on associated regulatory elements, transcription factor binding sites, and target genes for over 37 million variants. FORGEdb scores provide researchers with a quantitative assessment of the relative importance of each variant for targeted functional experiments.

Details

Language :
English
ISSN :
1474760X
Volume :
25
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genome Biology
Publication Type :
Academic Journal
Accession number :
edsdoj.9f08d77a09614b38b12d6c983e37bd21
Document Type :
article
Full Text :
https://doi.org/10.1186/s13059-023-03126-1