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
Обновлено 4/10/2026
Звёзды
785
Форки
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.
Установка
$ install --globalskills.sh
Использование
После установки вы можете использовать этот skill, выполнив следующую команду в терминале:
skills use clingen-clinvar-variants