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FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases
論文作者 Breeze, CE; Haugen, E; Gutierrez-Arcelus, M; Yao, XZ; Teschendorff, A; Beck, S; Dunham, I; Stamatoyannopoulos, J; Franceschini, N; Machiela, MJ; Berndt, SI
期刊/會議名稱 GENOME BIOLOGY
論文年度 2024
論文類別
摘要

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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