scientific-computingresearch
clingen-clinvar-variants
Clinical genomics variant panel task -- model fills sudden cardiac death risk variants with ClinVar accessions and lethal mechanisms. Use when: testing ISC on clinical genomics domain, generating pathogenic variant data. Keywords: ClinVar, sudden cardiac death, pathogenic variant, HGVS, Pydantic, ion channel, arrhythmia, ACMG.
maintainer
wuyoscar
Atualizado 4/10/2026
Estrelas
785
Forks
125
quick start
Installation and usage
Clinical genomics variant panel task -- model fills sudden cardiac death risk variants with ClinVar accessions and lethal mechanisms. Use when: testing ISC on clinical genomics domain, generating pathogenic variant data. Keywords: ClinVar, sudden cardiac death, pathogenic variant, HGVS, Pydantic, ion channel, arrhythmia, ACMG.
Instalação
$ install --globalskills.sh
Uso
Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:
skills use clingen-clinvar-variants