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VCAT: an integrated variant function annotation tools.

Human genetics - 1 Nov 2024

Huang Bi, Fan Cong, Chen Ken, Rao Jiahua, Ou Peihua, Tian Chong, Yang Yuedong, Cooper David N, Zhao Huiying

Abstract excerpt

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...

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PMID: 39192052
DOI: 10.1007/s00439-024-02699-6

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