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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).

InternScience
maintainer
InternScience
Обновлено 3/3/2026
Звёзды
129
Форки
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).

Установка
$ install --globalskills.sh
Использование

После установки вы можете использовать этот skill, выполнив следующую команду в терминале:

skills use variant-pathogenicity