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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.

wuyoscar
maintainer
wuyoscar
اپ ڈیٹ ہوا 4/10/2026
اسٹارز
785
فورکس
125
quick start

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.

انسٹالیشن
$ install --globalskills.sh
استعمال

انسٹال کرنے کے بعد، آپ یہ اسکل ٹرمینل میں درج ذیل کمانڈ چلا کر استعمال کر سکتے ہیں:

skills use clingen-cyvcf2-variants