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 fuente bioinformatics

maintainer

wu-yc

Actualizado 3/6/2026

Estrellas

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.

Instalación

$ install --globalskills.sh

Uso

Después de instalarlo, puedes usar este skill ejecutando el siguiente comando en tu terminal:

skills use clinvar-database