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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.

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Microck
maintainer
Microck
Atualizado 12/2/2025
Estrelas
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.

Instalação
$ install --globalskills.sh
Uso

Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:

skills use clinvar-database