bioinformaticsresearch
variant-pathogenicity
Variant Pathogenicity Assessment - Assess variant pathogenicity: Ensembl VEP prediction, ClinVar lookup, variation details, and gene phenotype associations. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get variation get phenotype gene. Combines 4 tools from 2 SCP server(s).
maintainer
InternScience
更新日 3/3/2026
スター
129
フォーク
7
quick start
Installation and usage
Variant Pathogenicity Assessment - Assess variant pathogenicity: Ensembl VEP prediction, ClinVar lookup, variation details, and gene phenotype associations. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get variation get phenotype gene. Combines 4 tools from 2 SCP server(s).
インストール
$ install --globalskills.sh
使い方
インストール後、ターミナルで以下のコマンドを実行してこのスキルを使用できます:
skills use variant-pathogenicity