PDF(Pubmed)
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.
摘要：
通过全基因组关联研究鉴定的大多数疾病相关变体位于蛋白质编码区之外。优先考虑候选调控变体和基因靶标以鉴定用于进一步功能实验的潜在生物学机制可能是具有挑战性的。为了应对这一挑战，我们开发了FORGEdb(https://forgedb.cancer.gov/;https://forge2.altiusinstitute.org/files/forgedb.html;和https://doi.org/10.5281/zenodo.10067458),一个独立的基于Web的工具，集成了多个数据集，提供有关相关监管要素的信息，转录因子结合位点，和超过3700万个变异的目标基因。FORGEdb评分为研究人员提供了针对目标功能实验的每个变体的相对重要性的定量评估。
