MPRAVarDB: an online database and web server for exploring regulatory effects of genetic variants.
MPRAVarDB: an online database and web server for exploring regulatory effects of genetic variants.
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MPRAVarDB：用于探索遗传变异的调控效应的在线数据库和网络服务器。
DOI：
10.1101/2024.04.02.587790
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发表时间：
2024
期刊：
影响因子：
--
通讯作者：
Chen,Li
中科院分区：
文献类型：
--
作者：
Nizomov,Javlon;Jin,Weijia;Xia,Yi;Liu,Yunlong;Li,Zhigang;Chen,Li
大规模并行报告基因检测（MPRA）是评估遗传变异对基因调控影响的重要技术。在这里，我们推出了 MPRAVarDB，一个在线数据库和网络服务器，用于探索遗传变异的调控作用。 MPRAVarDB 拥有 18 个 MPRA 实验，旨在评估与 GWAS 位点、eQTL 和各种基因组特征相关的遗传变异的调节作用，从而在 30 多个细胞系和 30 种人类疾病或性状中测试了总共 242,818 个变异。 MPRAVarDB 能够按基因组区域、疾病和细胞系或这些查询项的任意组合查询 MPRA 变体。值得注意的是，MPRAVarDB 提供了一套针对特定疾病和细胞系量身定制的预训练机器学习模型，有助于对调控变异进行全基因组预测。 MPRAVarDB 使用友好，用户只需点击几下即可收到查询和预测结果。
Massively parallel reporter assay (MPRA) is an important technology to evaluate the impact of genetic variants on gene regulation. Here, we present MPRAVarDB, an online database and web server, for exploring regulatory effects of genetic variants. MPRAVarDB harbors 18 MPRA experiments designed to assess the regulatory effects of genetic variants associated with GWAS loci, eQTLs and various genomic features, resulting in a total of 242,818 variants tested across more than 30 cell lines and 30 human diseases or traits. MPRAVarDB empowers the query of MPRA variants by genomic region, disease and cell line or by any combination of these query terms. Notably, MPRAVarDB offers a suite of pretrained machine learning models tailored to the specific disease and cell line, facilitating the genome-wide prediction of regulatory variants. MPRAVarDB is friendly to use, and users only need a few clicks to receive query and prediction results.