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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).

SpectrAI-Initiative
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SpectrAI-Initiative
更新於 4/2/2026
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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).

安裝
$ install --globalskills.sh
使用

安裝後,您可以透過在終端機執行以下指令來使用此技能:

skills use variant-pathogenicity