2026 Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE) : Submission #9

Presenter Information
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First Name: Charles
Middle Initial: {Empty}
Last Name: Breeze
Degree(s): Ph.D.
Position/Title/Career Status: CRTA Postdoc
Organization: OEEB/DCEG/NCI
Email: charlesbreeze@hotmail.com

Abstract Information
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Abstract Title: FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases
Abstract Summary:
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/), 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, now integrated within the NCI LDlink framework, provide researchers with a quantitative assessment of the relative importance of each variant for targeted functional experiments.