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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.

wuyoscar
maintainer
wuyoscar
更新日 4/10/2026
スター
785
フォーク
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.

インストール
$ install --globalskills.sh
使い方

インストール後、ターミナルで以下のコマンドを実行してこのスキルを使用できます:

skills use clingen-clinvar-variants