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.

Ver código-fonte bioinformatics

maintainer

wu-yc

Atualizado 3/6/2026

Estrelas

950

Forks

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.

Instalação

$ install --globalskills.sh

Uso

Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:

skills use clinvar-database