VarNexus 数据库发布，整合多模态预测与功能证据解读疾病相关调控变异
VarNexus: an integrative database for interpreting disease-associated regulatory variants through multimodal predictions and functional evidence
VarNexus 是一个整合数据库，用于把疾病相关变异与预测、群体和实验证据连接起来。它收录来自 UK Biobank 和 FinnGen 的 230 404 个精细定位候选变异，覆盖 1891 个疾病相关表型，并整合 AlphaGenome 在 11 种调控输出类型上的预计算预测，以及 bulk 和单细胞 xQTL、MPRA 测量和 GWAS-eQTL 共定位结果。用户可按变异、表型和基因进行交叉检索，并支持按需运行 AlphaGenome 预测、多组学基因组浏览器可视化和调控网络探索。
来源：Nucleic Acids Research · doi.org
Genome-wide association studies (GWAS) have identified numerous loci associated with complex diseases and traits, yet the functional interpretation of non-coding risk variants remains challenging. Sequence-to-function models like AlphaGenome provide large-scale multi-modal predictions of variant effects, but their predictions lack direct experimental support. In contrast, empirical resources such as molecular quantitative trait loci (QTLs) and massively parallel reporter assays (MPRAs) offer population-based or experimental support for variant function, but suffer from limited genomic coverage. Here, we present VarNexus (https://biomed.imu.edu.cn/varnexus), an integrative resource for connecting disease-associated variants with predicted, population-based, and experimental evidence. VarNexus currently contains 230 404 fine-mapped candidate variants across 1891 disease-related phenotypes from UK Biobank and FinnGen. It integrates precomputed AlphaGenome predictions across 11 regulatory output types with bulk and single-cell xQTLs, MPRA measurements, and GWAS-eQTL colocalization results. VarNexus enables cross-linked searches by variant, phenotype, and gene, together with on-demand AlphaGenome prediction, multi-omics genome-browser visualization, and regulatory network exploration. By combining sequence-based predictions with population-based and experimental evidence, VarNexus provides a framework for prioritizing candidate regulatory mechanisms supported by multiple evidence layers.