Department of Medical Research Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, 107 Yan Jiang West Road, Guangzhou, 500001, People's Republic of China.
Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Guangzhou, People's Republic of China.
Hum Genet. 2024 Nov;143(11):1311-1322. doi: 10.1007/s00439-024-02699-6. Epub 2024 Aug 27.
The development of sequencing technology has promoted discovery of variants in the human genome. Identifying functions of these variants is important for us to link genotype to phenotype, and to diagnose diseases. However, it usually requires researchers to visit multiple databases. Here, we presented a one-stop webserver for variant function annotation tools (VCAT, https://biomed.nscc-gz.cn/zhaolab/VCAT/ ) that is the first one connecting variant to functions via the epigenome, protein, drug and RNA. VCAT is also the first one to make all annotations visualized in interactive charts or molecular structures. VCAT allows users to upload data in VCF format, and download results via a URL. Moreover, VCAT has annotated a huge number (1,262,041,068) of variants collected from dbSNP, 1000 Genomes projects, gnomAD, ICGC, TCGA, and HPRC Pangenome project. For these variants, users are able to searcher their functions, related diseases and drugs from VCAT. In summary, VCAT provides a one-stop webserver to explore the potential functions of human genomic variants including their relationship with diseases and drugs.
测序技术的发展促进了人类基因组中变异的发现。确定这些变异的功能对于我们将基因型与表型联系起来，以及诊断疾病非常重要。然而，这通常需要研究人员访问多个数据库。在这里，我们展示了一个用于变异功能注释工具的一站式网络服务器（VCAT，https://biomed.nscc-gz.cn/zhaolab/VCAT/），它是第一个通过表观基因组、蛋白质、药物和 RNA 将变异与功能联系起来的服务器。VCAT 也是第一个将所有注释以交互式图表或分子结构可视化的服务器。VCAT 允许用户上传 VCF 格式的数据，并通过 URL 下载结果。此外，VCAT 还对来自 dbSNP、1000 基因组计划、gnomAD、ICGC、TCGA 和 HPRC 泛基因组计划的大量（1262041068 个）变异进行了注释。对于这些变体，用户可以从 VCAT 中搜索它们的功能、相关疾病和药物。总之，VCAT 提供了一个一站式网络服务器，用于探索人类基因组变异的潜在功能，包括它们与疾病和药物的关系。
