clinvar-database

Name: clinvar-database
Author: Microck

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.

檢視原始碼 bioinformatics

maintainer

Microck

更新於 12/2/2025

星標

157

分支

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.

安裝

$ install --globalskills.sh

使用

安裝後，您可以透過在終端機執行以下指令來使用此技能：

skills use clinvar-database