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.
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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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