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.
์ค์น ํ ํฐ๋ฏธ๋์์ ๋ค์ ๋ช ๋ น์ ์คํํ์ฌ ์ด ์คํฌ์ ์ฌ์ฉํ ์ ์์ต๋๋ค:
skills use clingen-clinvar-variants