VCAT: an integrated variant function annotation tools

doi:10.1007/s00439-024-02699-6

2024-08-27

PRE

DOI：10.1007/s00439-024-02699-6

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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.

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期刊

Human Genetics

IF:

3.6

论文数:

4.6K

被引数:

8.9K

机构

Sun Yat Sen University

学者数:

9.9W

论文数: 7.2W

被引数: 95

Cardiff University

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2.7W

论文数: 2.5W

被引数: 3.5W

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