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clinvar-database

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 sourcebioinformatics
Microck
maintainer
Microck
Mis à jour 12/2/2025
Étoiles
157
Forks
22
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