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.

Voir le code source bioinformatics

maintainer

wu-yc

Mis à jour 3/6/2026

Étoiles

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.

Installation

$ install --globalskills.sh

Utilisation

Après l'installation, vous pouvez utiliser ce skill en exécutant la commande suivante dans votre terminal :

skills use clinvar-database