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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.
maintainer
oimiragieo
Actualizado 3/6/2026
Estrellas
24
Forks
2
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