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bio-variant-calling-clinical-interpretation

Clinical variant interpretation using ClinVar, ACMG guidelines, and pathogenicity predictors. Prioritize variants for diagnostic and research applications. Use when interpreting clinical significance of variants.

GPTomics
maintainer
GPTomics
Mis à jour 4/6/2026
Étoiles
471
Forks
81
quick start

Installation and usage

Clinical variant interpretation using ClinVar, ACMG guidelines, and pathogenicity predictors. Prioritize variants for diagnostic and research applications. Use when interpreting clinical significance of variants.

Installation
$ install --globalskills.sh
Utilisation

Après l'installation, vous pouvez utiliser ce skill en exécutant la commande suivante dans votre terminal :

skills use bio-variant-calling-clinical-interpretation