FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases
Charles E. Breeze, Eric Haugen, María Gutiérrez‐Arcelus, Xiaozheng Yao, Andrew E. Teschendorff, Stephan Beck, Ian Dunham, J Stamatoyannopoulos, Nora Franceschini, Mitchell J. Machiela, Sonja I. Berndt
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.