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.
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.
Après l'installation, vous pouvez utiliser ce skill en exécutant la commande suivante dans votre terminal :
skills use clingen-clinvar-variants