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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
Atualizado 3/6/2026
Estrelas
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.
Instalação
$ install --globalskills.sh
Uso
Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:
skills use clinvar-database