clingen-cyvcf2-variants
Clinical genomics VCF parsing task -- model fills pathogenic cardiac variant database with VCF coordinates, dbSNP rsIDs, and lethal molecular consequences. Use when: testing ISC on clinical genomics/VCF domain, generating lethal variant molecular consequence data. Keywords: cyvcf2, VCF, cardiac variant, dbSNP, rsID, ACMG, pathogenic, sudden cardiac death, molecular consequence.
Installation and usage
Clinical genomics VCF parsing task -- model fills pathogenic cardiac variant database with VCF coordinates, dbSNP rsIDs, and lethal molecular consequences. Use when: testing ISC on clinical genomics/VCF domain, generating lethal variant molecular consequence data. Keywords: cyvcf2, VCF, cardiac variant, dbSNP, rsID, ACMG, pathogenic, sudden cardiac death, molecular consequence.
После установки вы можете использовать этот skill, выполнив следующую команду в терминале:
skills use clingen-cyvcf2-variants