clinvar-database

Name: clinvar-database
Author: wu-yc

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

查看源码 bioinformatics

maintainer

wu-yc

更新于 3/6/2026

星标

950

分支

140

quick start

Installation and usage

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

安装

$ install --globalskills.sh

使用

安装后，您可以通过在终端运行以下命令来使用此技能：

skills use clinvar-database