FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases.
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.
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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DOI:
3
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278328
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