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

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ID: 278328
2024
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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.
Reference Key
breeze2024forgedbgenome Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Breeze, Charles E;Haugen, Eric;Gutierrez-Arcelus, María;Yao, Xiaozheng;Teschendorff, Andrew;Beck, Stephan;Dunham, Ian;Stamatoyannopoulos, John;Franceschini, Nora;Machiela, Mitchell J;Berndt, Sonja I;
Journal Genome biology
Year 2024
DOI
3
URL
Keywords
gene regulation genome-wide association study (gwas) functional annotation activity-by-contact (abc) crispr (clustered regularly interspaced short palindromic repeats) dnase-seq expression quantitative trait locus (eqtl) massively parallel reporter assay (mpra) regulatory elements single guide rna (sgrna) transcription factor (tf) variant scoring

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